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What are the symptoms of Acrokeratoelastoidosis of Costa ? | What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. 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) Hyperkeratosis 90% Verrucae 90% Abnormality of the nail 50% Hyperhidrosis 50% Acrokeratosis - 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. |
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What is (are) Hemophilia B ? | Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene. |
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What are the symptoms of Hemophilia B ? | What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. 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 bleeding - Degenerative joint disease - Gastrointestinal hemorrhage - Joint hemorrhage - Persistent bleeding after trauma - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor IX activity - 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. |
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What is (are) Early Infantile Epileptic Encephalopathy ? | Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as burst suppression. The seizures associated with Ohtahara syndrome are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. |
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What is (are) Primary hyperoxaluria type 2 ? | Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern. |
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What are the symptoms of Primary hyperoxaluria type 2 ? | What are the signs and symptoms of Primary hyperoxaluria type 2? Primary hyperoxaluria type 2 is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the kidney and urinary tract), nephrocalcinosis (deposition of calcium oxalate in the kidney tissue), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Presenting symptoms are typically those associated with the presence of kidney stones, including hematuria, renal colic (a type of abdominal pain caused by kidney stones), or obstruction of the urinary tract. The symptoms of primary hyperoxaluria type 2 are typically less severe than primary hyperoxaluria type 1 and may be limited to kidney stone formation. Symptom onset may occur in childhood or adolescence. End stage renal disease is rarely observed in childhood. The Human Phenotype Ontology provides the following list of signs and symptoms for Primary hyperoxaluria type 2. 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) Renal insufficiency 5% Aminoaciduria - Autosomal recessive inheritance - Calcium oxalate nephrolithiasis - Hematuria - Hyperoxaluria - Nephrocalcinosis - 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. |
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What causes Primary hyperoxaluria type 2 ? | What causes primary hyperoxaluria type 2? Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or dramatically reduced. Glyoxylate builds up because of the enzyme shortage, and is converted to a compound called oxalate instead of glycolate. Oxalate, in turn, combines with calcium to form calcium oxalate, which the body cannot readily eliminate. Deposits of calcium oxalate can lead to the characteristic features of primary hyperoxaluria type 2. |
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Is Primary hyperoxaluria type 2 inherited ? | How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
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What are the treatments for Primary hyperoxaluria type 2 ? | How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications. To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme. |
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What are the symptoms of Raine syndrome ? | What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine 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) Anteverted nares 90% Depressed nasal ridge 90% Enlarged thorax 90% Exaggerated cupid's bow 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Short neck 90% Gingival overgrowth 50% Intrauterine growth retardation 50% Proptosis 50% Respiratory insufficiency 50% Short nose 50% Mixed hearing impairment 7.5% Natal tooth 7.5% Bowing of the long bones 5% Brachydactyly syndrome 5% Highly arched eyebrow 5% Hydrocephalus 5% Hydronephrosis 5% Hypoplasia of dental enamel 5% Long hallux 5% Mandibular prognathia 5% Microdontia 5% Micromelia 5% Pectus excavatum 5% Plagiocephaly 5% Protruding ear 5% Wide mouth 5% Autosomal recessive inheritance - Brachyturricephaly - Cerebral calcification - Choanal atresia - Choanal stenosis - Cleft palate - Depressed nasal bridge - Elevated alkaline phosphatase - High palate - Hypertelorism - Hypophosphatemia - Hypoplasia of midface - Large fontanelles - Malar flattening - Narrow mouth - Neonatal death - Protruding tongue - Pulmonary hypoplasia - Short stature - Thoracic hypoplasia - 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. |
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What is (are) Hydranencephaly ? | Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt. |
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What are the treatments for Hydranencephaly ? | How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain). |
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What is (are) Castleman disease ? | Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages. |
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What causes Castleman disease ? | What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of CD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with multicentric CD, specifically. HHV-8 is found in nearly all people who are HIV-positive and develop multicentric CD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause multicentric CD by making its own IL-6. |
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Is Castleman disease inherited ? | Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. |
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What are the symptoms of Caudal appendage deafness ? | What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage 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 pinna 90% Conductive hearing impairment 90% Epicanthus 90% Hydrocephalus 90% Hypoplasia of penis 90% Long palpebral fissure 90% Microcephaly 90% Short stature 90% Triangular face 90% Abnormality of the ribs 50% Abnormality of the testis 50% Astigmatism 50% Delayed skeletal maturation 50% Deviation of finger 50% Hypermetropia 50% Nystagmus 50% Premature birth 50% Respiratory insufficiency 50% Symphalangism affecting the phalanges of the hand 50% Wide mouth 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. |
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What is (are) Hemophagocytic lymphohistiocytosis ? | Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by mutations in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively. Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. |
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What are the symptoms of Hemophagocytic lymphohistiocytosis ? | What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of this condition may include: Fever Enlarged liver and/or spleen Skin rash Lymph node enlargement Breathing problems Easy bruising and/or abnormal bleeding Kidney abnormalities Heart problems Increased risk for certain cancers (leukemia, lymphoma) Many people with this condition also develop neurologic abnormalities. The neurological symptoms vary but may include irritability, fatigue, abnormal muscle tone, seizures, neck stiffness, mental status changes, ataxia, blindness, paralysis, and/or coma. The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis. 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) Reduced natural killer cell activity 13/13 Granulocytopenia 11/14 Neutropenia 5/7 Abnormal natural killer cell physiology - Anemia - Ataxia - Autosomal recessive inheritance - Coma - CSF pleocytosis - Encephalitis - Episodic fever - Failure to thrive - Fever - Generalized edema - Hemiplegia - Hemophagocytosis - Hepatomegaly - Hepatosplenomegaly - Hyperbetalipoproteinemia - Hypertonia - Hypertriglyceridemia - Hypoalbuminemia - Hypoalphalipoproteinemia - Hypofibrinogenemia - Hyponatremia - Hypoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - Increased CSF protein - Increased intracranial pressure - Increased serum ferritin - Increased total bilirubin - Irritability - Jaundice - Leukopenia - Lymphadenopathy - Meningitis - Muscular hypotonia - Prolonged partial thromboplastin time - Prolonged prothrombin time - Seizures - Splenomegaly - Tetraplegia - 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. |
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What causes Hemophagocytic lymphohistiocytosis ? | What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulate the immune system. The genetic cause of familial HLH, type 1 is currently unknown. Familial HLH, type 2 is caused by mutations in the PRF1 gene. Familial HLH, type 3 is caused by mutations in the UNC13D gene. Familial HLH, type 4 is caused by mutations in the STX11 gene. Familial HLH, type 5 is caused by mutations in the STXBP2 gene. All of the genes that cause HLH serve as the instructions for proteins that help destroy or turn off activated immune cells that are no longer needed. Changes in these genes lead to an overproduction of immune cells which results in an excessive immune response and the many signs and symptoms of familial HLH. The acquired causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases. |
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Is Hemophagocytic lymphohistiocytosis inherited ? | Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (mutation) in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Acquired HLH is not inherited. The non-genetic causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases. |
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How to diagnose Hemophagocytic lymphohistiocytosis ? | Is genetic testing available for hemophagocytic lymphohistiocytosis? Yes. Clinical genetic testing is available for the four genes known to cause familial hemophagocytic lymphohistiocytosis, types 2-5. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. Molecular genetic testing is not available for familial hemophagocytic lymphohistiocytosis, type 1 because the genetic cause is currently unknown. Genetic testing is not available for acquired HLH because it is caused by non-genetic factors. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is hemophagocytic lymphohistiocytosis diagnosed? A diagnosis of hemophagocytic lymphohistiocytosis (HLH) is based on the presence of certain signs and symotoms. A person is considered affected by this condition if they have at least five of the following symptoms: Fever Enlarged spleen Cytopenia (lower-than-normal number of blood cells) Elevated levels of triglycerides or fibrinogen in the blood Hemophagocytosis (the destruction of certain types of blood cells by histiocytes) on bone marrow, spleen or lymph node biopsy Decreased or absent NK cell activity High levels of ferritin in the blood Elevated blood levels of CD25 (a measure of prolonged immune cell activation) The diagnosis of familial HLH, types 2-5 can be confirmed with genetic testing. |
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What are the treatments for Hemophagocytic lymphohistiocytosis ? | How might hemophagocytic lymphohistiocytosis be treated? The best treatment options for hemophagocytic lymphohistiocytosis (HLH) are determined by a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. In acquired HLH, it is often necessary to treat the underlying condition. For example, antiobiotics or antiviral medications can be used to treat or prevent infections that may have triggered the exaggerated immune response. Allogeneic hematopoietic cell transplantation is considered a cure for familial HLH. It is often recommended that people with confirmed or suspected familial HLH undergo this treatment as early in life as possible. Prior to hematopoietic cell transplanation, affected people are usually treated with chemotherapy and/or immunotherapy to destroy excess immune cells which can lead to life-threatening inflammation. |
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What are the symptoms of Grubben de Cock Borghgraef syndrome ? | What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef 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 eye movement 90% Blue sclerae 90% Cognitive impairment 90% Deviation of finger 90% Dry skin 90% Eczema 90% Muscular hypotonia 90% Round face 90% Seizures 90% Short neck 90% Short palm 90% Autosomal recessive inheritance - Delayed speech and language development - Intrauterine growth retardation - Microdontia - Partial agenesis of the corpus callosum - Postnatal growth retardation - Widely spaced teeth - 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. |
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What is (are) Congenital hypothyroidism ? | Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome. |
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What are the symptoms of Congenital hypothyroidism ? | What are the signs and symptoms of Congenital hypothyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital hypothyroidism. 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% Abnormality of the liver 90% Abnormality of the tongue 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Constipation 90% Hypothyroidism 90% Muscular hypotonia 90% Sleep disturbance 90% Umbilical hernia 90% Coarse facial features 50% Cognitive impairment 50% Depressed nasal ridge 50% Dry skin 50% Hypothermia 50% Short stature 50% Sinusitis 50% Thickened skin 50% Abnormality of epiphysis morphology 7.5% Abnormality of reproductive system physiology 7.5% Abnormality of the pericardium 7.5% Anterior hypopituitarism 7.5% Arrhythmia 7.5% Cataract 7.5% Goiter 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypotension 7.5% Intestinal obstruction 7.5% Nephrolithiasis 7.5% Optic atrophy 7.5% Oral cleft 7.5% Paresthesia 7.5% Tracheoesophageal fistula 7.5% Autosomal recessive inheritance - Congenital hypothyroidism - Infantile onset - Thyroid hypoplasia - Thyroid-stimulating hormone excess - 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. |
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What are the symptoms of Porokeratosis, disseminated superficial actinic 2 ? | What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 2. 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 skin 90% Hyperkeratosis 90% Hypohidrosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 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. |
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What are the symptoms of Welander distal myopathy, Swedish type ? | What are the signs and symptoms of Welander distal myopathy, Swedish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Welander distal myopathy, Swedish 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) Myopathy 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Distal amyotrophy - Distal muscle weakness - Mildly elevated creatine phosphokinase - Rimmed vacuoles - Slow progression - Steppage gait - 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. |
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What are the symptoms of Pseudoprogeria syndrome ? | What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria 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 teeth 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Convex nasal ridge 90% Freckling 90% Gait disturbance 90% Hypertonia 90% Microcephaly 90% Narrow nasal bridge 90% Neurological speech impairment 90% Prominent nasal bridge 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Short philtrum 90% Thin skin 90% Abnormality of the nipple 50% Abnormality of the pinna 50% Delayed skeletal maturation 50% Glaucoma 50% Hemiplegia/hemiparesis 50% Microcornea 50% Optic atrophy 50% Seizures 50% Short stature 50% Absent eyebrow 2/2 Absent eyelashes 2/2 Convex nasal ridge 2/2 Glaucoma 2/2 Microcephaly 2/2 Progressive spastic quadriplegia 2/2 Short nose 2/2 Encephalocele 1/2 Autosomal 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. |
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What is (are) Brown-Sequard syndrome ? | Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. Treatment and prognosis depends on the underlying cause of the condition. |
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What are the treatments for Brown-Sequard syndrome ? | How might Brown-Sequard syndrome be treated? |
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What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. 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) Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - Segmental peripheral demyelination/remyelination - Upper limb muscle weakness - 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. |
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What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variable degrees of weakness and atrophy of the lower limbs, and optic atrophy with or without visual impairment. Autosomal recessive inheritance has been suggested. |
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What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. 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) Areflexia - Autosomal recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - 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. |
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What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? | Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treated by suppressing the immune system with steroids. |
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What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? | How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary to continue treatment that suppresses the immune system. Long term treatment may include a low dose of oral steroids and another type of immune suppressant, such as methotrexate or rituximab. Because there have been very few patients with CLIPPERS reported in medical journals, the best course of treatment has not yet been determined. |
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What are the symptoms of Histidinuria renal tubular defect ? | What are the signs and symptoms of Histidinuria renal tubular defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinuria renal tubular defect. 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) Aminoaciduria 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hypoglycemia 90% Hypoplastic toenails 90% Long philtrum 90% Macrotia 90% Sensorineural hearing impairment 90% Ventriculomegaly 90% Wide nasal bridge 90% Autosomal recessive inheritance - Generalized myoclonic seizures - Histidinuria - Impaired histidine renal tubular absorption - Intellectual disability - Rounded middle phalanx of finger - Short middle phalanx of finger - Smooth 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. |
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What are the symptoms of Deafness enamel hypoplasia nail defects ? | What are the signs and symptoms of Deafness enamel hypoplasia nail defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. 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 dental enamel 90% Abnormality of nail color 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Diabetes mellitus 90% Pili torti 90% Sensorineural hearing impairment 90% Taurodontia 90% Arrhythmia 50% Large hands 50% Primary amenorrhea 50% Round face 50% Short stature 50% Acanthosis nigricans 7.5% Camptodactyly of finger 7.5% Cerebral calcification 7.5% Delayed skeletal maturation 7.5% High anterior hairline 7.5% Ichthyosis 7.5% Muscle weakness 7.5% Peripheral neuropathy 7.5% Macular dystrophy 5% Amelogenesis imperfecta - Autosomal recessive inheritance - Hypoplasia of dental enamel - Leukonychia - 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. |
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What are the symptoms of Scheie syndrome ? | What are the signs and symptoms of Scheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for Scheie 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 aortic valve 90% Cerebral palsy 90% Decreased nerve conduction velocity 90% Glaucoma 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Coarse facial features 50% Hepatomegaly 50% Splenomegaly 50% Thick lower lip vermilion 50% Hemiplegia/hemiparesis 7.5% Hypertonia 7.5% Sensorineural hearing impairment 7.5% Sinusitis 7.5% Wide mouth 7.5% Retinal degeneration 5% Aortic regurgitation - Aortic valve stenosis - Autosomal recessive inheritance - Broad face - Corneal opacity - Depressed nasal bridge - Full cheeks - Genu valgum - Mandibular prognathia - Obstructive sleep apnea - Pes cavus - Short neck - Wide 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. |
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What is (are) Esthesioneuroblastoma ? | Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor. |
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What are the symptoms of Esthesioneuroblastoma ? | What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes |
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What causes Esthesioneuroblastoma ? | What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown. |
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How to diagnose Esthesioneuroblastoma ? | How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. |
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What are the treatments for Esthesioneuroblastoma ? | How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy. |
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What is (are) Pediatric Crohn's disease ? | Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas, anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery. |
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What is (are) Bartter syndrome ? | Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body. |
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What are the symptoms of Bartter syndrome ? | What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss. Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth). Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear). Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life. Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay. Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter 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 renal physiology 90% Abnormality of metabolism/homeostasis 90% Short stature 90% Hypocalciuria 7.5% Hypomagnesemia 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Chondrocalcinosis - Congenital onset - Constipation - Decreased glomerular filtration rate - Dehydration - Diarrhea - Edema - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Global glomerulosclerosis - Heterogeneous - Hydrops fetalis - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hypernatriuria - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic hypochloremic metabolic alkalosis - Hypokalemic metabolic alkalosis - Hyponatremia - Hyporeflexia - Hyposthenuria - Hypotension - Impaired platelet aggregation - Impaired reabsorption of chloride - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Motor delay - Muscle cramps - Muscular hypotonia - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Reduced renal corticomedullary differentiation - Renal insufficiency - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Sensorineural hearing impairment - Small for gestational age - Tetany - Triangular face - Tubulointerstitial fibrosis - Vomiting - 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. |
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What causes Bartter syndrome ? | What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome. |
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Is Bartter syndrome inherited ? | How is Bartter syndrome inherited? Bartter syndrome is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual. Parents who each carry one mutated copy of the gene are referred to as carriers and typically do not have signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Click here to visit the Genetic Home Reference Web site and view an illustration that demonstrates autosomal recessive inheritance. |
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How to diagnose Bartter syndrome ? | How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is skewed towards the base (i.e. the blood is more alkaline than usual). High levels of the hormones renin and aldosterone in the blood would also support the diagnosis. Urine test results that would support the diagnosis include high levels of potassium and chloride, suggesting that the kidneys have impaired ability to control the concentrations of these electrolytes. A positive genetic test result would confirm the diagnosis. Is genetic testing available for Bartter syndrome? Yes, genetic testing for Bartter syndrome is available. GeneTests lists the names of laboratories that are performing clinical genetic testing for Bartter syndrome. To view a list of the clinical laboratories performing testing for each type of Bartter syndrome, click on the appropriate link below: Antenatal Bartter syndrome type I Antenatal Bartter syndrome type II Bartter syndrome type III (Classical Bartter syndrome) Bartter syndrome type IVA (Infantile Bartter Syndrome with Sensorineural Deafness) Bartter syndrome type IVB Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals interested in learning more will need to work with a health care provider or a genetics professional. |
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What are the treatments for Bartter syndrome ? | How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassium-sparing diuretics. In high-stress situations such as illness or trauma, blood electrolyte levels can change rapidly, which may require immediate intravenous treatment. Genetic counseling may benefit affected individuals and their families. eMedicine has an article containing additional, thorough information about the management and treatment of Bartter syndrome. Click here to view this information. |
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What are the symptoms of High molecular weight kininogen deficiency ? | What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen 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) Autosomal recessive inheritance - Prolonged partial thromboplastin time - Reduced kininogen activity - 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. |
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What are the symptoms of Dystonia 6, torsion ? | What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. 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) Incomplete penetrance 60% Myoclonus 5% Abnormality of the head - Autosomal dominant inheritance - Dysarthria - Laryngeal dystonia - Limb dystonia - Oromandibular dystonia - Torsion dystonia - Torticollis - Writer's cramp - 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. |
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What are the symptoms of Atelosteogenesis type 1 ? | What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis 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) 11 pairs of ribs - Aplasia/Hypoplasia of the ulna - Brachydactyly syndrome - Cleft palate - Clubbing - Club-shaped proximal femur - Coronal cleft vertebrae - Cryptorchidism - Depressed nasal bridge - Distal tapering femur - Elbow dislocation - Encephalocele - Fibular aplasia - Frontal bossing - Fused cervical vertebrae - Hypoplasia of midface - Laryngeal stenosis - Malar flattening - Multinucleated giant chondrocytes in epiphyseal cartilage - Narrow chest - Neonatal death - Polyhydramnios - Premature birth - Proptosis - Radial bowing - Rhizomelia - Short femur - Short humerus - Short metacarpal - Short metatarsal - Short neck - Short nose - Sporadic - Stillbirth - Talipes equinovarus - Thoracic platyspondyly - Tibial bowing - 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. |
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What is (are) Norrie disease ? | Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential. |
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What are the symptoms of Norrie disease ? | What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie 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) Abnormality of the retinal vasculature 90% Anterior chamber synechiae 90% Aplasia/Hypoplasia of the iris 90% Cataract 90% Chorioretinal abnormality 90% Deeply set eye 90% Hypotelorism 90% Macrotia 90% Narrow nasal bridge 90% Neoplasm of the eye 90% Opacification of the corneal stroma 90% Sclerocornea 90% Vascular neoplasm 90% Abnormality of the vitreous humor 50% Aplasia/Hypoplasia of the lens 50% Cognitive impairment 50% Erectile abnormalities 50% Nystagmus 50% Retinal detachment 50% Sensorineural hearing impairment 50% Stereotypic behavior 50% Venous insufficiency 50% Abnormality of immune system physiology 7.5% Abnormality of the diencephalon 7.5% Abnormality of the helix 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cryptorchidism 7.5% Decreased body weight 7.5% Developmental regression 7.5% Diabetes mellitus 7.5% Ectopia lentis 7.5% EEG abnormality 7.5% Glaucoma 7.5% Hallucinations 7.5% Hyperreflexia 7.5% Hypertonia 7.5% Hypoplasia of the zygomatic bone 7.5% Involuntary movements 7.5% Microcephaly 7.5% Migraine 7.5% Muscle weakness 7.5% Muscular hypotonia 7.5% Optic atrophy 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Sleep disturbance 7.5% Thin vermilion border 7.5% Aggressive behavior - Blindness - Dementia - Hypoplasia of the iris - Intellectual disability, progressive - Microphthalmia - Psychosis - Retinal dysplasia - Retinal fold - Shallow anterior chamber - 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. |
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What causes Norrie disease ? | What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the norrin protein seems to play an important role in the development of retinal cells in the eye. It is also involved in creating a blood supply to tissues of the retina and the inner ear, and the development of other body systems. Mutations in the NDP gene can prevent the norrin protein from working correctly, resulting in the signs and symptoms of Norrie disease. |
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What are the treatments for Norrie disease ? | How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention; however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome. A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness. The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed. The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach. In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain. For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired. |
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What is (are) Syringoma ? | Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. They may occur suddenly in crops or multiples. They arise from the sweat ducts. They usually cause no symptoms. They are not associated with underlying abnormality. They are found more commonly in Caucasians, and in females at puberty or near middle-age. |
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What are the symptoms of Syringoma ? | What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. 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 skin - 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. |
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What are the treatments for Syringoma ? | How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider. |
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What are the symptoms of Myeloperoxidase deficiency ? | What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase 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 blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Abnormality of the immune system - Autosomal 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. |
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What is (are) Neonatal progeroid syndrome ? | Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive. |
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What are the symptoms of Neonatal progeroid syndrome ? | What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive Feeding difficulties Distinctive craniofacial features such as a triangular face; large skull with wide anterior (front) fontanelle; small, underdeveloped facial bones; natal teeth; low-set, posteriorly (towards the back) rotated ears, ectropion; and/or unusually sparse scalp hair, eyebrows, and eyelashes Thin arms and legs with disproportionately large hands and feet Small fingers and toes with underdeveloped nails Osteopenia (low bone density) Horizontal nystagmus Developmental delay Mild to severe intellectual disability The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal progeroid 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% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Aplasia/Hypoplasia of the eyebrow 90% Arachnodactyly 90% Cognitive impairment 90% Delayed skeletal maturation 90% Frontal bossing 90% Hearing impairment 90% High forehead 90% Intrauterine growth retardation 90% Laryngomalacia 90% Lipoatrophy 90% Macrocephaly 90% Narrow mouth 90% Short stature 90% Thin skin 90% Triangular face 90% Advanced eruption of teeth 50% Cerebral cortical atrophy 50% Convex nasal ridge 50% Cryptorchidism 50% Ventriculomegaly 50% Abnormality of chromosome stability 7.5% Limitation of joint mobility 7.5% Long penis 7.5% Flexion contracture 5% Hypertriglyceridemia 5% Hypospadias 5% Abnormality of cardiovascular system morphology - Absence of subcutaneous fat - Aplasia/Hypoplasia of the earlobes - Autosomal recessive inheritance - Blue sclerae - Congenital onset - Decreased subcutaneous fat - Delayed closure of the anterior fontanelle - Dysphagia - Ectropion - Entropion - Failure to thrive - Feeding difficulties - Gynecomastia - Hypertelorism - Hypoplastic ilia - Hypotrichosis - Increased serum testosterone level - Intellectual disability - Intention tremor - Large hands - Long fingers - Long foot - Long toe - Low-set ears - Malar flattening - Muscular hypotonia - Narrow nasal ridge - Natal tooth - Nystagmus - Parietal bossing - Prominent scalp veins - Recurrent respiratory infections - Short femur - Short humerus - Small nail - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Sudanophilic leukodystrophy - Thin ribs - Truncal ataxia - Upslanted palpebral fissure - Widely patent fontanelles and sutures - 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. |
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What causes Neonatal progeroid syndrome ? | What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified. |
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Is Neonatal progeroid syndrome inherited ? | Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely 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. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. |
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How to diagnose Neonatal progeroid syndrome ? | How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth. |
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What are the treatments for Neonatal progeroid syndrome ? | How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight. |
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What is (are) Synovial Chondromatosis ? | Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common. |
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What causes Synovial Chondromatosis ? | What causes synovial chondromatosis? The exact underlying cause of synovial chondromatosis is unknown. Some research suggests that trauma may play a role in its development because the condition primarily occurs in weight-bearing joints. Infection has also been considered as a contributing factor. The condition is not inherited. Synovial chondromatosis can reportedly occur as either a primary or secondary form. Primary synovial chondromatosis, which is more rare, occurs spontaneously and does not appear to relate to any pre-existing conditions. Secondary synovial chondromatosis is the more common form and often occurs when there is pre-existent osteoarthritis, rheumatoid arthritis, osteonecrosis, osteochondritis dissecans, neuropathic osteoarthropathy (which often occurs in diabetic individuals), tuberculosis, or osteochondral fractures (torn cartilage covering the end of a bone in a joint) in the affected individual. |
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What are the symptoms of Immunodeficiency with hyper IgM type 2 ? | What are the signs and symptoms of Immunodeficiency with hyper IgM type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 2. 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 recessive inheritance - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Lymphadenopathy - Recurrent bacterial infections - Recurrent infection of the gastrointestinal tract - Recurrent respiratory infections - Recurrent upper and lower respiratory tract infections - 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. |
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What is (are) Arginase deficiency ? | Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia in the blood). Although most affected people appear healthy at birth, features of arginase deficiency generally develop between ages one and three years. Signs and symptoms may include growth deficiency, spasticity (abnormal tensing of the muscles), developmental delay, loss of developmental milestones, intellectual disability, seizures, and microcephaly. Arginase deficiency is caused by changes (mutations) in the ARG1 gene and is inherited in an autosomal recessive manner. Management is generally focused on lowering arginine levels and preventing hyperammonemia. This may be accomplished through restriction of dietary protein and use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. |
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What are the symptoms of Arginase deficiency ? | What are the signs and symptoms of Arginase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Arginase 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) Aminoaciduria 90% Behavioral abnormality 90% Cognitive impairment 90% Neurological speech impairment 90% EEG abnormality 50% Hemiplegia/hemiparesis 50% Hyperammonemia 50% Seizures 50% Anorexia - Autosomal recessive inheritance - Diaminoaciduria - Hyperactivity - Intellectual disability - Irritability - Oroticaciduria - Postnatal growth retardation - Progressive spastic quadriplegia - Vomiting - 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. |
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What are the treatments for Arginase deficiency ? | How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. More specifically, people affected by arginase deficiency must restrict dietary protein and arginine. This is often achieved with the use of specialized formulas, which may account for half or more of protein intake. Although people with arginase deficiency are less prone to episodes of severe hyperammonemia than people affected by other urea cycle disorders, special treatment is needed should these episodes occur. During an episode, affected people are generally treated in the hospital and may require dialysis, nitrogen-scavenging medications, intravenous (IV) fluids/feeds and/or other treatments. These treatments are administered with the goal of rapidly reducing blood ammonia levels and preventing neurological damage. GeneReviews offers more specific information on the treatment of arginase deficiency and urea cycle disorders, in general. Please click on the links to access these resources. |
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What is (are) Cryptogenic organizing pneumonia ? | Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often affects adults in midlife (40 to 60 years of age). The exact underlying cause of the condition is unknown (idiopathic). Treatment varies based on the severity of the condition but generally includes glucocorticoids. |
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What are the symptoms of Cryptogenic organizing pneumonia ? | What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare) |
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What causes Cryptogenic organizing pneumonia ? | What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the pneumonia must be ruled out before stating that a person is affected by COP. Other forms of organizing pneumonia may result from infection (bacteria, viruses, parasites, or fungi); drugs; or a reaction to radiation therapy for breast cancer. Organizing pneumonia can also be associated with specific disorders such as certain connective tissue disorders, blood malignancies (cancers), or ulcerative colitis. |
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Is Cryptogenic organizing pneumonia inherited ? | Is cryptogenic organizing pneumonia inherited? We are not aware of any familial cases of cryptogenic organizing pneumonia (COP) in the medical literature, and to our knowledge, there is no evidence that some people may be genetically predisposed to developing COP. |
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How to diagnose Cryptogenic organizing pneumonia ? | How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. Additional testing such as a computed tomography (CT) scan or lung biopsy can confirm the diagnosis. |
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What are the treatments for Cryptogenic organizing pneumonia ? | How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP have persistent and/or progressive symptoms that will require therapy. In these cases, oral or intravenous glucocorticoids can be given which often result in rapid improvement of symptoms. |
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What are the symptoms of Hypochromic microcytic anemia with iron overload ? | What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. 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 - Abnormality of the liver - Anemia - Autosomal 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. |
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What is (are) Afibrinogenemia ? | Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait. |
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What are the symptoms of Afibrinogenemia ? | What are the signs and symptoms of Afibrinogenemia? In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Other bleeding manifestations include the following: Epistaxis (nosebleeds) and oral mucosal bleeding Hemarthrosis (joint bleeding) and muscle hematoma (bruising) Gastrointestinal bleeding Menorrhagia and postpartum hemorrhage Traumatic and surgical bleeding Spontaneous splenic rupture and intracranial hemorrhage (rare) Miscarriage The Human Phenotype Ontology provides the following list of signs and symptoms for Afibrinogenemia. 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 menstrual cycle 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Joint swelling 90% Spontaneous abortion 90% Intracranial hemorrhage 7.5% Autosomal recessive inheritance - Hypofibrinogenemia - Splenic rupture - 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. |
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What causes Afibrinogenemia ? | What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (FGB) or gamma (FGG). |
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Is Afibrinogenemia inherited ? | Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a disease-causing mutation in one of the fibrinogen genes. In order to be affected, these children would also have to inherit a mutated gene from their other parent. |
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What are the treatments for Afibrinogenemia ? | How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis. |
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What is (are) WaterhouseFriderichsen syndrome ? | WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although adults may rarely be affected. It is deadly if not treated immediately. |
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What are the symptoms of WaterhouseFriderichsen syndrome ? | What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain). A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome. In its early stages, the rash consists of small, pink macules or papules. These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease. |
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What causes WaterhouseFriderichsen syndrome ? | What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides. It may also be associated with a history of splenectomy. In rare cases, it may be caused by the use of medications that promote blood clotting, low platelet counts, primary antiphospholipid syndrome, renal vein thrombosis or steroid use. While the exact mechanism of disease is not clear, activation of several cytokine mediators appears to lead to sepsis and shock. |
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What are the treatments for WaterhouseFriderichsen syndrome ? | How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive. |
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What are the symptoms of Infantile axonal neuropathy ? | What are the signs and symptoms of Infantile axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile axonal neuropathy. 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% Decreased nerve conduction velocity 90% Developmental regression 90% Facial palsy 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Neurological speech impairment 90% Optic atrophy 90% Abnormality of movement 50% Hypertonia 50% Incoordination 50% Microcephaly 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Hypothyroidism 7.5% Seizures 7.5% Type I diabetes mellitus 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. |
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What are the symptoms of Dystonia 18 ? | What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. 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) Irritability 5% Migraine 5% Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Choreoathetosis - Cognitive impairment - Dyskinesia - Dystonia - EEG abnormality - Hypoglycorrhachia - Incomplete penetrance - Reticulocytosis - 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. |
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What are the symptoms of Partial atrioventricular canal ? | What are the signs and symptoms of Partial atrioventricular canal? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial atrioventricular canal. 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 - Congestive heart failure - Cyanosis - First degree atrioventricular block - Inlet ventricular septal defect - Primum atrial septal defect - Pulmonary hypertension - 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. |
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What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ? | What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. 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 cerebellum 90% Dandy-Walker malformation 90% Dolichocephaly 90% Frontal bossing 90% Hydrocephalus 90% Hypertelorism 90% Optic atrophy 90% Cognitive impairment 50% Strabismus 50% Autosomal dominant inheritance - Posterior fossa cyst - Sagittal craniosynostosis - 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. |
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What are the symptoms of Lethal chondrodysplasia Moerman type ? | What are the signs and symptoms of Lethal chondrodysplasia Moerman type? 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. |
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What is (are) Microgastria limb reduction defect ? | Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and gastrointestinal system are also symptoms of this condition. This condition is caused by an error that occurs during the development of the embryo. Treatment may involve reconstructive surgery (Hunt-Lawrence pouch) to help improve the child's feeding abilities. |
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What are the symptoms of Microgastria limb reduction defect ? | What are the signs and symptoms of Microgastria limb reduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Microgastria limb reduction defect. 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 spleen 90% Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Microgastria 90% Abnormality of the humerus 50% Abnormality of the metacarpal bones 50% Abnormality of the ulna 50% Congenital muscular torticollis 50% Frontal bossing 50% Multicystic kidney dysplasia 50% Plagiocephaly 50% Abnormal localization of kidney 7.5% Abnormal lung lobation 7.5% Abnormality of neuronal migration 7.5% Abnormality of the clavicle 7.5% Absent hand 7.5% Amelia 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atria septal defect 7.5% Elbow dislocation 7.5% Hepatomegaly 7.5% Holoprosencephaly 7.5% Intestinal malrotation 7.5% Phocomelia 7.5% Renal hypoplasia/aplasia 7.5% Split hand 7.5% Tracheoesophageal fistula 7.5% Truncus arteriosus 7.5% Urogenital fistula 7.5% Absent gallbladder - Absent thumb - Aganglionic megacolon - Agenesis of corpus callosum - Anophthalmia - Arrhinencephaly - Asplenia - Bicornuate uterus - Biliary tract abnormality - Cryptorchidism - Cystic renal dysplasia - Failure to thrive - Fusion of the left and right thalami - Gastroesophageal reflux - Horseshoe kidney - Hypoplasia of the radius - Hypoplasia of the ulna - Oligodactyly (hands) - Pelvic kidney - Polymicrogyria - Secundum atrial septal defect - Sporadic - Type I truncus arteriosus - Unilateral renal agenesis - 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. |
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What is (are) Notalgia paresthetica ? | Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness of the skin). There are no signs on the skin except for signs of chronic scratching and rubbing. Amyloid deposits (a collection of a specific type of protein) may be found in skin biopsies, but this is thought to be a secondary event. The cause of the itch in notalgia paresthetica may be due to the compression of spinal nerves by bones or muscles as the nerves emerge through the vertebrae to the back muscles. Sometimes degenerative changes in the area of the vertebrae that innervate the affected back muscles can be seen, but not always. Symptoms of notalgia paresthetica may respond to topical capsaicin treatment. |
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What are the treatments for Notalgia paresthetica ? | How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitters Local anaesthetic creams Amitriptyline tablets at night Transcutaneous electrical nerve stimulation (TENS) Gabapentin Oxcarbazepine Botulinum toxin Phototherapy Exercise Additional information about treatment of notalgia paresthetica can be accessed by clicking here. You can find relevant journal articles on treatment of notalgia paresthetica through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using 'notalgia paresthetica AND treatment' as your search term should locate 10 articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed |
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What are the symptoms of Brachydactyly type A1 ? | What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. 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 thumb 90% Brachydactyly syndrome 90% Short hallux 90% Short stature 90% Cone-shaped epiphysis 50% Abnormality of the metacarpal bones 7.5% Abnormality of the ulna 7.5% Clinodactyly of the 5th finger 7.5% Scoliosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Absent distal interphalangeal creases - Autosomal dominant inheritance - Broad metacarpal epiphyses - Broad palm - Distal symphalangism (hands) - Flattened metatarsal heads - Heterogeneous - Proportionate shortening of all digits - Radial deviation of the 2nd finger - Radial deviation of the 3rd finger - Radial deviation of the 4th finger - Short distal phalanx of finger - Short metacarpal - Short palm - Short proximal phalanx of hallux - Short proximal phalanx of thumb - Slender metacarpals - Thin proximal phalanges with broad epiphyses of the hand - 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. |
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What is (are) Good syndrome ? | Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis. While the cause of Good syndrome remains unknown, there is some evidence that a defect of the bone marrow is involved. Treatment includes removal of the thymic tumor and immunoglobulin replacement. |