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Prognosis 5

The Human Phenotype Ontology provides the following list of signs and symptoms for Maternally inherited diabetes and deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the macula 90% Chorioretinal abnormality 90% Constipation 90% Diabetes mellitus 90% Malabsorption 90% Sensorineural hearing impairment 90% Abnormality of lipid metabolism 50% Aplasia/Hypoplasia of the cerebellum 50% Arrhythmia 50% Congestive heart failure 50% Glomerulopathy 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Muscle weakness 50% Myalgia 50% Ophthalmoparesis 50% Proteinuria 50% Cataract 7. 5% Incoordination 7. 5% Renal insufficiency 7. 5% Retinopathy 7. 5% Visual impairment 7. 5% Ptosis 5% Dysarthria - External ophthalmoplegia - Hyperglycemia - Mitochondrial inheritance - Pigmentary retinal degeneration - Retinal degeneration - Seizures - Type II diabetes mellitus - Unsteady gait - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.

What are the symptoms of Maternally inherited diabetes and deafness ?

MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. Most of the bodys cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mitochondrial DNA mutation.

Is Maternally inherited diabetes and deafness inherited ?

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better. Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum. H-ABC is is caused by a mutation in the TUBB4A gene.

What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ?

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.

What causes Hypomyelination with atrophy of basal ganglia and cerebellum ?

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain. Myelin usually forms a protective covering around brain cells. In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.

How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ?

Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, there is a case report of one patients movement difficulties improving somewhat after he took the medication levodopa-carbidopa. Another patient showed improvement in movement symptoms after taking folinic acid supplements.

What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bruising susceptibility 90% Hyperextensible skin 90% Joint hypermobility 90% Arthralgia 50% Joint dislocation 50% Muscle weakness 50% Muscular hypotonia 50% Myalgia 50% Peripheral neuropathy 50% Skeletal muscle atrophy 50% Thin skin 50% Abnormality of the mitral valve 7. 5% Arrhythmia 7. 5% Atherosclerosis 7. 5% Cerebral ischemia 7. 5% Gastrointestinal hemorrhage 7. 5% Hypercortisolism 7. 5% Spina bifida occulta 7. 5% Increased connective tissue 5% Muscle fiber splitting 5% Proximal amyotrophy 5% Proximal muscle weakness 5% Ambiguous genitalia, female - Autosomal recessive inheritance - Bicornuate uterus - Hiatus hernia - Mitral valve prolapse - Soft skin - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Bifid nose with or without anorectal and renal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney - Anteriorly placed anus - Autosomal recessive inheritance - Bifid nose - Bulbous nose - Rectovaginal fistula - Short philtrum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Bifid nose with or without anorectal and renal anomalies ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Snowflake vitreoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cataract - Vitreoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Snowflake vitreoretinal degeneration ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Narrow chest 90% Sprengel anomaly 90% Abnormality of the scapula - Abnormality of the shoulder girdle musculature - Autosomal dominant inheritance - Down-sloping shoulders - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Costocoracoid ligament congenitally short ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis-Noonan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the helix 90% Abnormality of the pulmonary valve 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cafe-au-lait spot 90% Cognitive impairment 90% Hypertelorism 90% Hypertrophic cardiomyopathy 90% Low-set, posteriorly rotated ears 90% Ptosis 90% Short stature 90% Webbed neck 90% Abnormality of coagulation 50% Abnormality of the lymphatic system 50% Abnormality of the thorax 50% Cryptorchidism 50% Feeding difficulties in infancy 50% Lisch nodules 5% Autosomal dominant inheritance - Axillary freckling - Cubitus valgus - Delayed speech and language development - Depressed nasal bridge - Epicanthus - Hypoplasia of midface - Inguinal freckling - Low posterior hairline - Low-set ears - Macrocephaly - Malar flattening - Muscle weakness - Neurofibromas - Optic glioma - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Prominent nasolabial fold - Pulmonic stenosis - Scoliosis - Secundum atrial septal defect - Short neck - Specific learning disability - Superior pectus carinatum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Neurofibromatosis-Noonan syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atresia of the external auditory canal - Autosomal recessive inheritance - Bilateral talipes equinovarus - Lethal skeletal dysplasia - Limb undergrowth - Macrocephaly - Mesomelia - Opacification of the corneal stroma - Platyspondyly - Shortening of all metacarpals - Shortening of all phalanges of fingers - Wide anterior fontanel - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Cervical ribs - Hypertrophy of the urinary bladder - Omphalocele - Preaxial hand polydactyly - Prune belly - Renal dysplasia - Renal hypoplasia - Sprengel anomaly - Talipes equinovarus - Thoracolumbar scoliosis - Urethral obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Burn-Mckeown syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Choanal atresia 90% Hypertelorism 90% Abnormality of the cardiac septa 50% Prominent nasal bridge 50% Abnormality of the palate 7. 5% Short nose 7. 5% Short stature 7. 5% 2-3 toe syndactyly - Abnormality of metabolism/homeostasis - Atria septal defect - Autosomal recessive inheritance - Bifid uvula - Bilateral choanal atresia/stenosis - Cleft palate - Cleft upper lip - Conductive hearing impairment - Feeding difficulties in infancy - Hypomimic face - Lower eyelid coloboma - Mandibular prognathia - Narrow mouth - Preauricular skin tag - Protruding ear - Renal hypoplasia - Short palpebral fissure - Short philtrum - Thin vermilion border - Underdeveloped nasal alae - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Burn-Mckeown syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Trichodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Fine hair 90% Microcephaly 90% Narrow forehead 90% Narrow nasal bridge 90% Reduced number of teeth 90% Slow-growing hair 90% Autosomal dominant inheritance - Brittle hair - Conical tooth - Hypodontia - Shell teeth - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Trichodental syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cervical curvature - Abnormal facial shape - Amyoplasia - Cleft palate - Cleft upper lip - Cystic hygroma - Depressed nasal ridge - Edema - Epicanthus - Fetal akinesia sequence - Flexion contracture - Hypertelorism - Hypoplastic heart - Increased susceptibility to fractures - Intrauterine growth retardation - Joint dislocation - Low-set ears - Malignant hyperthermia - Multiple pterygia - Polyhydramnios - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Multiple pterygium syndrome X-linked ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Abnormality of movement 50% Cognitive impairment 50% Hyperreflexia 50% Intrauterine growth retardation 7. 5% Muscular hypotonia 7. 5% Scoliosis 7. 5% Strabismus 7. 5% Abnormality of metabolism/homeostasis - Babinski sign - Clonus - Dysarthria - Dysdiadochokinesis - Dysmetria - Hypochromic microcytic anemia - Intention tremor - Juvenile onset - Nonprogressive cerebellar ataxia - Sideroblastic anemia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Cortisone reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acne - Autosomal recessive inheritance - Hirsutism - Infertility - Obesity - Oligomenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Cortisone reductase deficiency ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Omphalocele cleft palate syndrome lethal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Omphalocele 90% Abnormality of female internal genitalia 50% Cleft palate 50% Hydrocephalus 50% Autosomal recessive inheritance - Bicornuate uterus - Bifid uvula - Death in infancy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Omphalocele cleft palate syndrome lethal ?

Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.

What is (are) Tracheal agenesis ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheal agenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Respiratory insufficiency 90% Tracheal stenosis 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Tracheal agenesis ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Ramos Arroyo Clark syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Cognitive impairment 90% Corneal dystrophy 90% Depressed nasal bridge 90% Frontal bossing 90% Hypertelorism 90% Inflammatory abnormality of the eye 90% Lacrimation abnormality 90% Large face 90% Malar flattening 90% Sensorineural hearing impairment 90% Upslanted palpebral fissure 90% Visual impairment 90% Aganglionic megacolon 50% Patent ductus arteriosus 50% Abnormality of the upper urinary tract 7. 5% Apnea 7. 5% Atria septal defect 7. 5% Absent retinal pigment epithelium - Anteverted nares - Autosomal dominant inheritance - Broad eyebrow - Decreased corneal sensation - Failure to thrive - Hypoplasia of midface - Intellectual disability - Keratitis - Low-set ears - Reduced visual acuity - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Ramos Arroyo Clark syndrome ?

TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cows milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21. 1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1.

What is (are) TAR syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for TAR syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bilateral radial aplasia 100% Abnormality of coagulation 90% Aplasia/Hypoplasia of the ulna 90% Thrombocytopenia 90% Clinodactyly of the 5th finger 75% Cow milk allergy 75% Coxa valga 75% Eosinophilia 75% Genu varum 75% Hip dislocation 75% Patellar aplasia 75% Abnormality of the intestine 50% Adducted thumb 50% Aplasia/hypoplasia of the humerus 50% Broad forehead 50% Broad thumb 50% High forehead 50% Low-set, posteriorly rotated ears 50% Patellar dislocation 50% Death in infancy 40% Anemia 33% Abnormal localization of kidney 7. 5% Abnormality of the cardiac septa 7. 5% Abnormality of the shoulder 7. 5% Carpal bone hypoplasia 7. 5% Cavum septum pellucidum 7. 5% Cerebellar hypoplasia 7. 5% Cleft palate 7. 5% Delayed CNS myelination 7. 5% Edema of the dorsum of feet 7. 5% Edema of the dorsum of hands 7. 5% Finger syndactyly 7. 5% Hepatosplenomegaly 7. 5% Lateral clavicle hook 7. 5% Malar flattening 7. 5% Nevus flammeus of the forehead 7. 5% Phocomelia 7. 5% Ptosis 7. 5% Scoliosis 7. 5% Sensorineural hearing impairment 7. 5% Short phalanx of finger 7. 5% Strabismus 7. 5% Talipes equinovarus 7. 5% Tetralogy of Fallot 7. 5% Tibial torsion 7. 5% Short stature 7% Aplasia of the uterus 5% Axial malrotation of the kidney 5% Cervical ribs 5% Coarctation of aorta 5% Fibular aplasia 5% Fused cervical vertebrae 5% Anteverted nares - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Carpal synostosis - Decreased antibody level in blood - Horseshoe kidney - Meckel diverticulum - Motor delay - Pancreatic cysts - Seborrheic dermatitis - Seizures - Shoulder muscle hypoplasia - Spina bifida - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of TAR syndrome ?

Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems. Surgical removal of the pterygium is often not needed unless it is causing irritation or vision loss.

What is (are) Pterygium of the conjunctiva and cornea ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Opacification of the corneal stroma 50% Abnormality of the conjunctiva - Autosomal dominant inheritance - Pterygium - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Pterygium of the conjunctiva and cornea ?

X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes (mutations) in the BTK gene and is inherited in an X-linked recessive manner. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.

What is (are) X-linked agammaglobulinemia ?

Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. These bacterial infections can be severe and life-threatening. Most affected individuals are not vulnerable to infections caused by viruses. Infections can usually be prevented with proper treatment. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Abnormality of the tonsils 90% Decreased antibody level in blood 90% Diarrhea 90% Inflammatory abnormality of the eye 90% Otitis media 90% Recurrent cutaneous abscess formation 90% Recurrent respiratory infections 90% Short stature 90% Sinusitis 90% Skin rash 90% Skin ulcer 90% Abnormality of neutrophils 50% Arthritis 50% Cellulitis 50% Meningitis 50% Sepsis 50% Abnormality of the liver 7. 5% Alopecia 7. 5% Anemia 7. 5% Autoimmunity 7. 5% Hypopigmented skin patches 7. 5% Malabsorption 7. 5% Osteomyelitis 7. 5% Thrombocytopenia 7. 5% Weight loss 7. 5% Agammaglobulinemia - Conjunctivitis - Cor pulmonale - Delayed speech and language development - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Hearing impairment - Lymph node hypoplasia - Neoplasm - Pneumonia - Prostatitis - Pyoderma - Recurrent urinary tract infections - Septic arthritis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of X-linked agammaglobulinemia ?

Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken in healthy individuals. Preventing bacterial infections is very important for people with XLA. Gammaglobulin (a type of protein in the blood that contains antibodies to prevent or fight infections) is the main treatment for people with XLA. In the past, most people received this by intravenous (IV) infusion every two to four weeks. However, in the last few years, an increasing number of people have been receiving it by weekly subcutaneous injections. The choice of whether to receive it intravenously or by injection may just depend on what is most convenient for the doctor and/or patient. Sometimes, people with XLA have a reaction to gammaglobulin, which may include headaches, chills, backache, or nausea. These reactions are more likely to occur when they have a viral infection or when the brand of gammaglobulin has been changed. Some centers use chronic prophylactic antibiotics (continuous use of antibiotics) to prevent bacterial infections. Aggressive use of antibiotics lower the chance of chronic sinusitis and lung disease, which are common complications in individuals with XLA. Early diagnosis and treatment of bowel infections may decrease the risk of inflammatory bowel disease (IBD). Furthermore, children with XLA should not be given live viral vaccines. For example, they should be given inactivated polio vaccine (IPV) rather than the oral polio vaccine. The siblings of children with XLA should also be given inactivated polio vaccine (IPV) rather than oral polio vaccine in order to avoid infecting their affected sibling with live virus.

What are the treatments for X-linked agammaglobulinemia ?

Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.

What is (are) Stargardt disease ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bulls eye maculopathy 15/15 Autosomal recessive inheritance - Macular degeneration - Retinitis pigmentosa inversa - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Stargardt disease ?

Stargardt disease is most commonly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier A person with autosomal recessive Stargardt disease will always pass one mutated copy of the gene to each of his/her children. In other words, each of his/her children will at least be a carrier. A child of an affected person can be affected if the other parent is also affected or is a carrier. In rare cases, Stargardt disease may be inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. An affected person typically inherits the mutated gene from an affected parent. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Is Stargardt disease inherited ?

Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about genetic testing for this condition should speak with their ophthalmologist or a genetics professional.

How to diagnose Stargardt disease ?

At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA). You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.

What are the treatments for Stargardt disease ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Lassueur-Graham-Little syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Hyperkeratosis 90% Lichenification 50% Pruritus 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Lassueur-Graham-Little syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute monocytic leukemia - Anemia - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital agranulocytosis - Eosinophilia - Growth abnormality - Increased antibody level in blood - Infantile onset - Monocytosis - Neutropenia - Recurrent bacterial infections - Thrombocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Severe congenital neutropenia autosomal dominant ?

Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer.

What is (are) Mucopolysaccharidosis type IIIB ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cardiomegaly - Coarse facial features - Coarse hair - Dense calvaria - Diarrhea - Dysostosis multiplex - Hearing impairment - Heparan sulfate excretion in urine - Hepatomegaly - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Juvenile onset - Ovoid thoracolumbar vertebrae - Progressive neurologic deterioration - Recurrent upper respiratory tract infections - Seizures - Sleep disturbance - Splenomegaly - Synophrys - Thickened ribs - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Mucopolysaccharidosis type IIIB ?

Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause of this condition is unknown. Signs and symptoms of this condition may begin suddenly or develop over time. Some of the symptoms may incude headaches that do not go away, fever, rapid weight loss, confusion or forgetfulness, and general malaise. Treatment for this condition involves a course of immunosuppresive steroids.

What is (are) Primary angiitis of the central nervous system ?

The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off. Patients generally stay on cyclophosphamide therapy between three and six months, depending on when remission occurs and if there are any potential side effects from cyclophosphamide. Once cyclophosphamide is discontinued, it should be replaced with a less toxic medication for an additional six to twelve months of maintenance therapy. Some doctors switch from cyclophosphamide to azathioprine (2 mg/kg) or mycophenolate mofetil. Methotrexate can also be used, but may be limited by its difficulty to cross the blood brain barrier. There is limited data on how long the maintenance therapy lasts so the decision on the duration of the therapy should be individualized, based upon how the patient responds to therapy.

What are the treatments for Primary angiitis of the central nervous system ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Maturity-onset diabetes of the young - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Maturity-onset diabetes of the young, type 6 ?

Occipital horn syndrome (OHS) is characterized by sagging and non-stretchy skin (cutis laxa), wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints. Individuals with OHS are said to have normal or slightly reduced intelligence. This condition is considered to be a mild type of Menkes diseases, which affects copper levels in the body. Occipital horn syndrome may be caused by mutations in the ATP7A gene, and it is inherited in an x-linked recessive pattern.

What is (are) Occipital horn syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Occipital horn syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cerebral calcification 90% Cognitive impairment 90% Exostoses 90% Hyperextensible skin 90% Joint hypermobility 90% Abnormality of the liver 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the wrist 50% Aneurysm 50% Atypical scarring of skin 50% Brachydactyly syndrome 50% Bruising susceptibility 50% Elbow dislocation 50% Feeding difficulties in infancy 50% Hypothermia 50% Long philtrum 50% Muscular hypotonia 50% Narrow chest 50% Pectus carinatum 50% Pectus excavatum 50% Platyspondyly 50% Reduced bone mineral density 50% Synostosis of joints 50% Venous insufficiency 50% Abnormality of the fibula 7. 5% Abnormality of the hip bone 7. 5% Abnormality of the humerus 7. 5% Abnormality of the pinna 7. 5% Abnormality of the shoulder 7. 5% Abnormality of the tibia 7. 5% Bladder diverticulum 7. 5% Coarse hair 7. 5% Genu valgum 7. 5% Hernia of the abdominal wall 7. 5% High forehead 7. 5% Kyphosis 7. 5% Osteolysis 7. 5% Pes planus 7. 5% Recurrent urinary tract infections 7. 5% Scoliosis 7. 5% Bladder carcinoma - Broad clavicles - Broad ribs - Capitate-hamate fusion - Carotid artery tortuosity - Chronic diarrhea - Convex nasal ridge - Coxa valga - Hiatus hernia - High palate - Hydronephrosis - Joint laxity - Limited elbow extension - Limited knee extension - Long face - Long neck - Narrow face - Orthostatic hypotension - Osteoporosis - Pelvic bone exostoses - Persistent open anterior fontanelle - Redundant skin - Short clavicles - Short humerus - Soft skin - Ureteral obstruction - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Occipital horn syndrome ?

How to diagnose Occipital horn syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7. 5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Prieto X-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Gait disturbance 90% Low-set, posteriorly rotated ears 90% Ventriculomegaly 90% Abnormal dermatoglyphics 50% Abnormality of the hip bone 50% Aplasia/Hypoplasia of the earlobes 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Increased number of teeth 50% Muscular hypotonia 50% Neurological speech impairment 50% Optic atrophy 50% Patellar dislocation 50% Sacral dimple 50% Seizures 50% Abnormality of the pupil 7. 5% Abnormality of the ribs 7. 5% Delayed skeletal maturation 7. 5% Epicanthus 7. 5% Hernia of the abdominal wall 7. 5% Nystagmus 7. 5% Ptosis 7. 5% Reduced bone mineral density 7. 5% Strabismus 7. 5% 11 pairs of ribs - Abnormality of the skin - Abnormality of the teeth - Cerebral atrophy - Clinodactyly - Coxa valga - Inguinal hernia - Intellectual disability - Low-set ears - Osteoporosis - Patellar subluxation - Prominent nose - Radial deviation of finger - Retrognathia - Talipes equinovarus - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Prieto X-linked mental retardation syndrome ?

Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy).

What is (are) IBIDS syndrome ?

The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, short stature, mental retardation, delayed neuromuscular development and other central nervous system anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely-aged facial appearance, hypogonadism, cataracts, osteosclerosis (abnormal increase in density and hardness of the bone), dysphonia, and increased susceptibility to infections. The Human Phenotype Ontology provides the following list of signs and symptoms for IBIDS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of IBIDS syndrome ?

Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier.

Is IBIDS syndrome inherited ?

Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum.

What are the treatments for IBIDS syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Familial congenital fourth cranial nerve palsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Fourth cranial nerve palsy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Familial congenital fourth cranial nerve palsy ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7. 5% Hernia of the abdominal wall 7. 5% Preauricular skin tag 7. 5% Sensorineural hearing impairment 7. 5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Conductive deafness with malformed external ear ?

Camptocormia, camptocormism or bent spine syndrome, (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek kamptos (to bend) and kormos (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinsons disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause.

What is (are) Camptocormism ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Quebec platelet disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Impaired epinephrine-induced platelet aggregation - Joint hemorrhage - Menorrhagia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Quebec platelet disorder ?

Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most of the time, no single clear cause can be identified. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may also be diagnosed in adults. Too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults. In adolescents, puberty may be delayed or absent. Treatment involves growth hormone injections.

What is (are) Growth hormone deficiency ?

What are the signs and symptoms of Chromosome 8p23. The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23. 1 deletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7. 5% Abnormality of thumb phalanx 7. 5% Congenital diaphragmatic hernia 7. 5% Deeply set eye 7. 5% Hypertrophic cardiomyopathy 7. 5% Hypoplastic left heart 7. 5% Obesity 7. 5% Patent ductus arteriosus 7. 5% Preaxial foot polydactyly 7. 5% Proximal placement of thumb 7. 5% Tetralogy of Fallot 7. 5% Transposition of the great arteries 7. 5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Chromosome 8p23.1 deletion ?

Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder.

What is (are) Satoyoshi syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metaphyses 90% Abnormality of the wrist 90% Genu varum 90% Hyperlordosis 90% Limb undergrowth 90% Microcephaly 90% Polycystic ovaries 90% Secondary amenorrhea 90% Short stature 90% Tapered finger 90% Brachydactyly syndrome 5% Short metacarpal 5% Short metatarsal 5% Alopecia universalis - Amenorrhea - Diarrhea - Genu valgum - Hypoplasia of the uterus - Malabsorption - Mildly elevated creatine phosphokinase - Osteolytic defects of the phalanges of the hand - Pes planus - Skeletal muscle hypertrophy - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Satoyoshi syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Paris-Trousseau thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiovascular system 50% Cognitive impairment 50% Abnormal bleeding - Clinodactyly - Intellectual disability - Prolonged bleeding time - Ptosis - Pyloric stenosis - Radial deviation of finger - Sporadic - Thrombocytopenia - Trigonocephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Paris-Trousseau thrombocytopenia ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Fingerprint body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Myopathy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Fingerprint body myopathy ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Aniridia absent patella ?

Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic, occurring in people with no family history of NCBRS.

What is (are) Nicolaides-Baraitser syndrome ?

Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes (brachydactyly), and prominent joints of the fingers and toes (called interphalangeal joints). Some features of the condition may vary among affected people. All people with NCBRS have intellectual disability. In most cases it is severe, but in some cases it may be moderate or mild. Language is particularly limited, with at least 30% of affected people never developing speech. Major motor milestones such as sitting and walking are usually not very delayed. People with NCBRS are often happy and friendly, but may have temper tantrums or periods of aggression. Some people have some symptoms of autism spectrum disorder. Epilepsy occurs in about 2/3 of affected people. The type of seizures that occur can vary. Facial characteristics are usually not recognized in younger affected people. They may include a triangular-shaped face; prominent eyelashes; a nose with a broad base, thick nostrils, and upturned tip; a broad philtrum; and wide mouth. The palpebral fissures (width of the eyes) are sometimes narrow and/or downslanting. As people with NCBRS age, the amount of subcutaneous fat tissue tends to decrease, making the skin below the eyes sagging and wrinkled, especially at the cheeks when smiling. However, some affected people retain full cheeks. Facial characteristics typically become more pronounced with increasing age. In some affected adults, the lower third of the face becomes markedly broad. Sparse scalp hair is a major feature of NCBRS and is present in almost all affected people. It often gradually worsens with age, but in some people it improves over time. Skin is usually wrinkled and more noticeable in the distal limbs. Teeth may be widely spaced, and eruption of teeth (baby or adult) may be delayed. While the hands and feet usually appear normal at birth, the interphalangeal joints become prominent in the majority of affected people. Bone age can vary, and osteoporosis is not uncommon. The Human Phenotype Ontology provides the following list of signs and symptoms for Nicolaides-Baraitser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal joint morphology 90% Abnormality of the palate 90% Anteverted nares 90% Brachydactyly syndrome 90% Cognitive impairment 90% Long philtrum 90% Microcephaly 90% Neurological speech impairment 90% Thin vermilion border 90% Triangular face 90% Wide mouth 90% Abnormality of the distal phalanx of finger 50% Abnormality of the eyelashes 50% Abnormality of the metacarpal bones 50% Abnormality of the nipple 50% Blepharophimosis 50% Clubbing of toes 50% Cryptorchidism 50% Eczema 50% Highly arched eyebrow 50% Narrow nasal bridge 50% Sandal gap 50% Scoliosis 50% Seizures 50% Short stature 50% Abnormality of epiphysis morphology 7. 5% Accelerated skeletal maturation 7. 5% Delayed skeletal maturation 7. 5% Hernia 7. 5% Short stature 13 of 23 Narrow nasal bridge 12 of 22 Widely spaced teeth 11 of 21 Scoliosis 9 of 22 Unilateral narrow palpebral fissure 9 of 22 Eczema 8 of 23 Absent speech - Aggressive behavior - Broad philtrum - Failure to thrive - Intellectual disability, severe - Intrauterine growth retardation - Low anterior hairline - Poor speech - Prominent interphalangeal joints - Short metacarpal - Short metatarsal - Short phalanx of finger - Sparse scalp hair - Thick lower lip vermilion - Wide nasal base - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Nicolaides-Baraitser syndrome ?

Nicolaides-Baraitser syndrome (NCBRS) is caused by mutations in the SMARCA2 gene, which is located on the small arm of chromosome 9. All mutations that have been identified in affected people have been either missense mutations or in-frame deletions. There may be some correlations between specific types of mutations and some of the features that result (called genotype-phenotype correlations), but more studies are needed to draw definitive conclusions.

What causes Nicolaides-Baraitser syndrome ?

Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. All known cases of NCBRS have been sporadic. This means it is thought that the mutation occurred for the first time in each affected person (called a de novo mutation). There have not been reports of NCBRS being inherited from a parent, or recurring in any family (with the exception of one pair of identical twins).

Is Nicolaides-Baraitser syndrome inherited ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Cystic angiomatosis of bone - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Insulin-resistant diabetes mellitus at puberty - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Congenital generalized lipodystrophy type 1 ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Peptidic growth factors deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Convex nasal ridge 90% Flexion contracture 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Lipoatrophy 90% Narrow mouth 90% Palmoplantar keratoderma 90% Pectus excavatum 90% Pes planus 90% Weight loss 90% Abnormal hair quantity 50% Abnormality of limb bone morphology 50% Abnormality of lipid metabolism 50% Atherosclerosis 50% Chondrocalcinosis 50% Premature graying of hair 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Autosomal recessive inheritance - Dermal atrophy - Insulin-resistant diabetes mellitus - Plantar hyperkeratosis - Reduced subcutaneous adipose tissue - Thin skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Peptidic growth factors deficiency ?

46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy.

What is (are) 46,XX testicular disorder of sex development ?

The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the testis 90% Polycystic ovaries 90% Ovotestis 5% Autosomal dominant inheritance - Azoospermia - Bifid scrotum - Decreased serum testosterone level - Hypoplasia of the uterus - Hypoplasia of the vagina - Micropenis - Perineal hypospadias - Scrotal hypoplasia - True hermaphroditism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of 46,XX testicular disorder of sex development ?

Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in an autosomal dominant manner with reduced penetrance. A responsible gene has not yet been identified. The condition often spontaneously regresses in late childhood.

What is (are) Uncombable hair syndrome ?

Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat. In some cases, constant efforts to groom the hair lead to breakage, but increased fragility is not a constant feature of the condition. In later childhood, there is usually a considerable amount of spontaneous improvement. The Human Phenotype Ontology provides the following list of signs and symptoms for Uncombable hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Hypopigmentation of hair 90% Woolly hair 90% Abnormal hair quantity 7. 5% Autosomal dominant inheritance - Pili canaliculi - Uncombable hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Uncombable hair syndrome ?

The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.

What causes Uncombable hair syndrome ?

Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to skip a generation or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope.

Is Uncombable hair syndrome inherited ?

A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney-shaped on cross section, and has a canal-like longitudinal groove along one or two faces. People with concerns about symptoms of UHS are encouraged to speak with their dermatologist about being evaluated for this condition.

How to diagnose Uncombable hair syndrome ?

There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such as permanent waves (perms); chemical relaxants; or excessive brushing and blow drying. These strategies may improve the general manageability of the hair, although how well they work is subjective. Another strategy that has been suggested to improve the appearance of the hair is the use of biotin supplements. One case report suggested significant improvement in hair strength and combability, with an increase in rate of growth after 4 months of supplementation.

What are the treatments for Uncombable hair syndrome ?

Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically in people with no family history of the condition. Risk factors for the condition include smoking, exposure to certain chemicals, and having chronic bladder infections. Treatment varies based on the severity of the condition and may include surgery, radiation therapy, chemotherapy, and/or biological therapy.

What is (are) Bladder cancer ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Transitional cell carcinoma of the bladder - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Bladder cancer ?

Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start in the skin and later spread to other parts of the body, melanomas originating in the gastrointestinal tract are rare. The most frequently reported site is in the esophagus and anorectum.

What is (are) Primary gastrointestinal melanoma ?

Symptoms of primary melanoma of the small intestine can vary from person to person. Symptoms tend to be non-specific including nausea, vomiting, stomachache, fatigue, hemorrhage (broken blood vessels), and anemia (low red blood cell count).

What are the symptoms of Primary gastrointestinal melanoma ?

The cause of primary melanoma of the small intestine is currently unknown. Theories include that the cancer originated from a undetectable primary tumor that spontaneously (naturally) regressed on its own; that the cancer originated from a primary tumor that is so small it can not be detected using standard clinical and laboratory investigations; lastly, because melanocytes are not normally found in the stomach, a final theory is that the melanocytes are in the stomach because early melanocyte cells lost their way during the development of the baby in the womb, and that these misplaced cells later became cancerous.

What causes Primary gastrointestinal melanoma ?

A variety of tests may be involved in the initial diagnosis of the tumor, including contrast radiography, endoscopy, and CT scan. The tumor is confirmed by surgical resection. Careful study of tissue samples from the tumor under a microscope will show the same immunohistochemical characteristics of skin melanomas. Once this has been established, the following are proposed diagnostic criteria for primary melanoma of the small intestine: 1. The absence of a previous or synchronously resected melanoma or atypical melanocytic lesion of the skin. 2. The absence of metastatic spread to other organs. 3. The presence of intramucosal lesions of the overlying or adjacent intestinal mucosa.

How to diagnose Primary gastrointestinal melanoma ?

Treatment of primary melanoma of the small intestine often involves the surgical resection of the tumor. We encourage you to speak with your healthcare provider to learn more about your surgical and other treatment options.

What are the treatments for Primary gastrointestinal melanoma ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertension 5% Aplasia/Hypoplasia involving the central nervous system - Ataxia - Autosomal recessive inheritance - Brain atrophy - Broad-based gait - Cutis marmorata - Dementia - Dysarthria - Emotional lability - Hemianopia - Migraine - Pseudobulbar signs - Seizures - Telangiectases producing marbled skin - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert ?

Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. When PAH is inherited from an affected relative it is called familial PAH. Cases with no identifiable cause may be referred to as idiopathic PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines.

What is (are) Pulmonary arterial hypertension ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary arterial hypertension. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Pulmonary hypertension 100% Chest pain 90% Elevated right atrial pressure 90% Increased pulmonary vascular resistance 90% Respiratory insufficiency 90% Right ventricular failure 90% Right ventricular hypertrophy 90% Edema of the lower limbs 50% Hepatomegaly 50% Vertigo 50% Abnormal thrombosis 33% Dyspnea 33% Pulmonary arterial medial hypertrophy 33% Pulmonary artery vasoconstriction 33% Pulmonary aterial intimal fibrosis 33% Abnormality of the tricuspid valve 7. 5% Acrocyanosis 7. 5% Ascites 7. 5% Congestive heart failure 7. 5% Hemoptysis 7. 5% Recurrent respiratory infections 7. 5% Sudden cardiac death 7. 5% Arterial intimal fibrosis - Autosomal dominant inheritance - Hypertension - Incomplete penetrance - Telangiectasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Pulmonary arterial hypertension ?

People with pulmonary arterial hypertension (PAH) benefit from receiving treatment at specialized centers. The Pulmonary Hypertension Association offers a Find a Doctor tool which may aid you in locating your nearest center. Treatment of serious or life threatening PAH may involve continuous IV epoprostenol. Other treatment options, include treprostinil, iloprost, bosentan, ambrisentan, sildenafil, and tadalafil. Many of these treatments can be administered in various forms, such as by shot, IV, or inhalation. A small number of people with PAH respond well to long term oral calcium channel blockers. Blood thinners, diuretics, and supplemental oxygen may be prescribed as needed. Many drugs can be harmful to people with PAH. The following should be avoided: appetite suppressants, cocaine, amphetamines (and related compounds), low oxygen environments (such as high altitudes), and possibly estrogen compounds (oral contraceptives and hormone replacement therapy).

What are the treatments for Pulmonary arterial hypertension ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy progressive myoclonic type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebellar atrophy 5% Cerebral atrophy 5% Hypoplasia of the corpus callosum 5% Microcephaly 5% Visual loss 5% Autosomal recessive inheritance - Dysarthria - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Generalized myoclonic seizures - Intellectual disability - Progressive - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Epilepsy progressive myoclonic type 3 ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Short toe 50% Abnormality of the cardiovascular system - Autosomal dominant inheritance - Short middle phalanx of finger - Sick sinus syndrome - Ulnar deviation of the 2nd finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Heart-hand syndrome, Spanish type ?

Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects both the proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. There is currently no effective treatment for IBM. The cause is unclear in most cases, but it can sometimes be inherited.

What is (are) Inclusion body myositis ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% EMG abnormality 90% Skeletal muscle atrophy 90% Feeding difficulties in infancy 50% Myalgia 7. 5% Autosomal dominant inheritance - Dysphagia - Hyporeflexia - Inflammatory myopathy - Phenotypic variability - Proximal muscle weakness - Rimmed vacuoles - Slow progression - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Inclusion body myositis ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Copper deficiency, familial benign. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acne 50% Deep philtrum 50% Muscular hypotonia 50% Seizures 50% Short stature 50% Wide nasal bridge 50% Abnormal hair quantity 7. 5% Abnormality of the femur 7. 5% Abnormality of the tibia 7. 5% Anemia 7. 5% Abnormality of the skeletal system - Curly hair - Early balding - Failure to thrive - Hypocupremia - Seborrheic dermatitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Copper deficiency, familial benign ?

Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i. e. , cervical lymphadenitis).

What is (are) Mycobacterium Malmoense ?

Many cases of M. malmoense infection cause no symptoms, and as a result go unrecognized. M. malmoense infections in adults often present as lung infections with or without fever. In children, M. malmoense infections can present as a single sided, non-tender, enlarging, neck mass. The mass may be violet in color and often does not respond to conventional antibiotic therapy. M. malmoense infection can also cause skin lesions or abscesses.

What are the symptoms of Mycobacterium Malmoense ?

M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.

What causes Mycobacterium Malmoense ?

Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e. g. , neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.

What is (are) Laing distal myopathy ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 7. 5% Proximal muscle weakness 7. 5% Amyotrophy of ankle musculature - Autosomal dominant inheritance - Childhood onset - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: neuropathic changes - Facial palsy - Gait disturbance - High palate - Infantile onset - Mildly elevated creatine phosphokinase - Myalgia - Neck muscle weakness - Pes cavus - Phenotypic variability - Ragged-red muscle fibers - Scoliosis - Slow progression - Toe extensor amyotrophy - Type 1 muscle fiber predominance - Weakness of long finger extensor muscles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Laing distal myopathy ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Potato nose ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of female internal genitalia 90% Abnormality of the cranial nerves 90% Abnormality of the metaphyses 90% Abnormality of the pulmonary artery 90% Abnormality of the ribs 90% Abnormality of the thumb 90% Aplasia/Hypoplasia of the lungs 90% Blue sclerae 90% Brachydactyly syndrome 90% Cleft palate 90% Dandy-Walker malformation 90% Intestinal malrotation 90% Kyphosis 90% Macrocephaly 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Renal hypoplasia/aplasia 90% Scoliosis 90% Short stature 90% Ventricular septal defect 90% Vertebral segmentation defect 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Lethal chondrodysplasia Moerman type ?

Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and childhood, but may also be observed in adults, particularly in pregnant women. Small pyogenic granulomas may go away on their own. Larger lesions are treated with surgery, electrocautery, freezing, or lasers.

What is (are) Pyogenic granuloma ?