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What are the symptoms of Richieri Costa Da Silva syndrome ?

What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva 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) Absent tibia - 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.

What is (are) Myocarditis ?

Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.

What is (are) Abdominal aortic aneurysm ?

Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. About 20% of AAAs eventually rupture and are often fatal. The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. When more than one family member is affected, it may be considered "familial abdominal aortic aneurysm." Treatment depends on the size of the aneurysm and may include blood pressure medications, or surgery to repair the aneurysm.

What are the symptoms of Abdominal aortic aneurysm ?

What are the signs and symptoms of Abdominal aortic aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. 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) Abdominal aortic aneurysm - 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.

Is Abdominal aortic aneurysm inherited ?

Is abdominal aortic aneurysm inherited? Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome. Having a family history of AAA increases the risk of developing the condition. A genetic predisposition has been suspected since the first report of three brothers who had a ruptured AAA, and additional families with multiple affected relatives have been reported. In some cases, it may be referred to as " familial abdominal aortic aneurysm." A Swedish survey reported that the relative risk of developing AAA for a first-degree relative of a person with AAA was approximately double that of a person with no family history of AAA. In another study, having a family history increased the risk of having an aneurysm 4.3-fold. The highest risk was among brothers older than age 60, in whom the prevalence was 18%. While specific variations in DNA (polymorphisms) are known or suspected to increase the risk for AAA, no one gene is known to cause isolated AAA. It can occur with some inherited disorders that are caused by mutations in a single gene, such as Marfan syndrome and Ehlers-Danlos syndrome, vascular type. However, these more typically involve the thoracoabdominal aorta. Because the inheritance of AAA is complex, it is not possible to predict whether a specific person will develop AAA. People interested in learning more about the genetics of AAA, and how their family history affects risks to specific family members, should speak with a genetics professional.

What is (are) Limb-girdle muscular dystrophy type 2A ?

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. The condition is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Treatment is aimed at maintaining mobility and preventing complications. There are three subtypes of LGMD2A which differ by the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. Onset is usually before age 12 or after age 30; Scapulohumeral LGMD (also known as Erb LGMD) usually has milder symptoms with infrequent early onset. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected don't have symptoms, just high levels of creatine kinase in their blood.

What are the symptoms of Limb-girdle muscular dystrophy type 2A ?

What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. 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) Facial palsy 5% Autosomal recessive inheritance - Clumsiness - Difficulty walking - Elevated serum creatine phosphokinase - Eosinophilia - Flexion contracture - Muscular dystrophy - Proximal amyotrophy - Scapular winging - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Porokeratosis of Mibelli ?

Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors. Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer. Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.

What are the symptoms of Porokeratosis of Mibelli ?

What are the signs and symptoms of Porokeratosis of Mibelli? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis of Mibelli. 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% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 33% Abnormality of chromosome stability - Autosomal dominant inheritance - Middle age onset - Porokeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the treatments for Porokeratosis of Mibelli ?

How might porokeratosis of Mibelli be treated? Treatment depends on the size, location, and aggressiveness of porokeratosis of Mibelli. Affected individuals are recommended to visit their personal physician regularly to watch for signs of skin cancer, limit sun exposure to the affected area, and use moisturizers as needed. Imiquimod cream has been found to be an effective treatment, as has 5-fluorouracil cream. A group of medications called retinoids (including acitretin and isotretinoin), as a pill or cream, may be another treatment option. If a skin cancer develops from porokeratosis of Mibelli, surgery is recommended.

What is (are) Mantle cell lymphoma ?

Mantle cell lymphoma (MCL) belongs to a group of diseases known as non-Hodgkins lymphomas (NHL), which are cancers that affect the the lymphatic system (part of the immune system). MCL accounts for 6% of all non-Hodgkin lymphomas and is mostly found in males during their early 60s. Lymphocytes, which are white blood cells that make up the lymphatic system. There are two main types: B-lymphocytes (B-cells) and T-lymphocytes (T-cells). Mantel cell lymphoma is a B-cell lymphoma that develops from cancerous B-cells within a region of the lymph node known as the mantle zone. Although mantle cell lymphomas are slow-growing cancers, at the time of diagnosis, they are usually widespread in the lymph nodes and require intensive treatment because they can become lethal within a short period of time.

What are the symptoms of Mantle cell lymphoma ?

What are the signs and symptoms of Mantle cell lymphoma? Common symptoms of Mantle cell lymphoma include fatigue, loss of appetite, and enlarged lymph nodes, spleen, and/or liver. Other symptoms may include night sweats, unexplained high fevers, and weight loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Mantle cell lymphoma. 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) Hematological neoplasm 90% Lymphadenopathy 90% Anorexia 50% Splenomegaly 50% Weight loss 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What causes Mantle cell lymphoma ?

What causes Mantle cell lymphoma? Most lymphomas are not inherited, but rather an acquired disease in which the DNAwithin the cells has been damaged. Damage to the DNA occurs by a combination of different factors. Many mantle cell lymphomas are found to be associated with a chromsosome translocation. Some causes of non-Hodgkin lymphomas (NHL) have been linked to viral infections including Ebstein-Barr virus, HIV, and human herpesvirus 6. It has also been found that immunodeficiencies and environmental factors like hair dyes and pesticides may lead to NHLs.

How to diagnose Mantle cell lymphoma ?

How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be found by genetic molecular testing methods such as PCR and FISH.

What are the treatments for Mantle cell lymphoma ?

How might Mantle cell lympoma be treated? Various treatmentsare currently available for Mantle cell lymphomas. Rare cases of early stage mantle cell lymphomas may be treated with radiation therapy. For more advance stagestreatment includes chemotherapy, immunotherapy, bone marrow transplant, and medication.

What is (are) Linear porokeratosis ?

Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age. The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body. These markings are not usually painful, though they can sometimes cause open sores in the skin. There is up to an 11% chance that these markings could progress to skin cancer (basal cell cancer or squamous cell carcinoma) over time. The exact cause of linear porokeratosis is unknown, but risk factors may include exposure to the sun or radiation, problems with the immune system (immunosuppression), or genetic predisposition.

What are the treatments for Linear porokeratosis ?

How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of the characteristic skin markings. Several medications (5-fluorouracil, acitretin) have been shown to be effective for treating this condition in a small number of patients. We identified a single report of photodynamic therapy being used to successfully treat an individual with linear porokeratosis. Surgery is recommended to remove any skin cancer that may develop.

What is (are) 1q21.1 microdeletion syndrome ?

1q21.1 microdeletion syndrome is a newly described chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). It has been described in 46 patients to date. Some people with this deletion have no observable features; while others have variable features that can include small head, developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.

What are the symptoms of 1q21.1 microdeletion syndrome ?

What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion 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 nasal morphology 50% Abnormality of the palate 50% Cognitive impairment 50% Deeply set eye 50% Epicanthus 50% Frontal bossing 50% Long philtrum 50% Microcephaly 50% Short stature 50% Abnormality of the aorta 7.5% Abnormality of the cardiac septa 7.5% Abnormality of thumb phalanx 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Brachydactyly syndrome 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Hypermetropia 7.5% Intrauterine growth retardation 7.5% Iris coloboma 7.5% Joint hypermobility 7.5% Muscular hypotonia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Scoliosis 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short foot 7.5% Sleep disturbance 7.5% Strabismus 7.5% Talipes 7.5% Toe syndactyly 7.5% Vesicoureteral reflux 7.5% Autosomal dominant inheritance - Broad hallux - Broad thumb - Bulbous nose - Coarctation of aorta - Incomplete penetrance - Intellectual disability - Schizophrenia - Transposition of the great arteries - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Chudley-Mccullough syndrome ?

What are the signs and symptoms of Chudley-Mccullough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough 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) Intellectual disability, mild 5% Seizures 5% Arachnoid cyst - Autosomal recessive inheritance - Cerebellar dysplasia - Cerebellar hypoplasia - Dysplastic corpus callosum - Gray matter heterotopias - Hydrocephalus - Hypoplasia of the corpus callosum - Large foramen magnum - Partial agenesis of the corpus callosum - Polymicrogyria - Severe sensorineural hearing impairment - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Erythema nodosum, idiopathic ?

Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the layer of fat under the skin (panniculitis). Other symptoms that may accompany the skin findings include the following: fever, a general feeling of being ill. joint aches, and swelling of the affected area. In many cases, EN is presumed to be a delayed reaction to antigens associated with various infections, drugs, and certain systemic diseases. In many cases, however, EN has no identifiable cause (idiopathic); in these cases, clinical follow-up is needed to rule out certain conditions including inflammatory bowel disease, sarcoidosis, lymphoma, and Behcet's disease. Treatment may include rest, nonsteroidal anti-inflammatory drugs (NSAIDS), steroids, hot or cold compresses, potassium iodide solution, and supportive bandages or compression stockings. Symptoms usually resolve within six weeks, but EN may become a chronic disorder lasting for months and, occasionally, for years. Approximately 30% cases of idiopathic EN may last more than 6 months.

What are the symptoms of Deafness, X-linked 2 ?

What are the signs and symptoms of Deafness, X-linked 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, X-linked 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) Conductive hearing impairment - Dilatated internal auditory canal - Progressive sensorineural hearing impairment - Stapes ankylosis - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Epithelial basement membrane corneal dystrophy ?

Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. This leads to recurrent epithelial erosions, which can cause blurred vision and severe pain. This condition is usually not inherited. However, families with autosomal dominant inheritance and mutations in the TGFBI gene have been identified.

What are the symptoms of Epithelial basement membrane corneal dystrophy ?

What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. Generally, the pain will be worse upon awakening in the morning. Other symptoms include sensitivity to light, excessive tearing, and foreign body sensation in the eye. This condition usually affects adults between the ages of 40 and 70, although it can develop earlier in life. It gets its name from the unusual appearance of the cornea during an eye exam. Most often, the affected epithelium will have a map-like appearance, i.e., large, slightly gray outlines that look like a continent on a map. There may also be clusters of opaque dots close to the map-like patches. Less frequently, the irregular basement membrane will form concentric lines in the central cornea that resemble small fingerprints. Epithelial basement membrane corneal dystrophy is not a progressive condition. Typically, it will flare up occasionally for a few years and then go away on its own, with no lasting loss of vision. Most people never know that they have this condition, since they do not have any pain or vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Epithelial basement membrane corneal dystrophy. 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 - Corneal dystrophy - Map-dot-fingerprint corneal dystrophy - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the treatments for Epithelial basement membrane corneal dystrophy ?

How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it, or prescribe lubricating eye drops and ointments. With treatment, these erosions usually heal within three days, although periodic flashes of pain may occur for several weeks thereafter. Other treatments include anterior corneal punctures to allow better adherence of cells; corneal scraping to remove eroded areas of the cornea and allow regeneration of healthy epithelial tissue; and use of the excimer laser to remove surface irregularities. An article from eMedicine Journal provides additional information on treatment for epithelial basement membrane corneal dystrophy at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1193945-treatment#showall

What are the symptoms of Histidinemia ?

What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. 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) Behavioral abnormality 5% Neurological speech impairment 5% Intellectual disability 1% Autosomal recessive inheritance - Histidinuria - Hyperhistidinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Basilar migraine ?

Basilar migraine is a type of migraine headache with aura that is associated with bilateral (on both sides) pain at the back of the head. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming and may include dizziness and vertigo, slurred speech, ataxia, tinnitus, visual changes, and loss of balance. Although basilar migraines can occur in men and women of all ages, they are most common in adolescent girls. The exact underlying cause is not well understood. However, migraines are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. In rare cases, the susceptibility to basilar migraines may be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. During episodes, affected people are typically treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms.

What are the symptoms of Basilar migraine ?

What are the signs and symptoms of Basilar migraine? Episodes of basilar migraines usually begin with an aura, which is a group of symptoms that serve as a warning sign that a bad headache is coming. Signs and symptoms of an aura vary, but may include: Dizziness and vertigo Disorientation Double vision and other visual changes Tinnitus Loss of balance Confusion Dysarthria Fainting Loss of consciousness These symptoms can last any where from two minutes to over an hour. They are then followed by a throbbing headache which is often along the back of the head and nausea. The Human Phenotype Ontology provides the following list of signs and symptoms for Basilar migraine. 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) Aphasia - Apraxia - Autosomal dominant inheritance - Blurred vision - Coma - Confusion - Diplopia - Drowsiness - Dysarthria - Dysphasia - Episodic ataxia - Fever - Hemiparesis - Hemiplegia - Incomplete penetrance - Intellectual disability - Migraine with aura - Seizures - Transient unilateral blurring of vision - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. What are the signs and symptoms of a basilar migraine? Episodes of basilar migraines usually begin with an aura, which is a group of symptoms that serve as a warning sign that a bad headache is coming. Signs and symptoms of an aura vary, but may include: Dizziness and vertigo Disorientation Double vision and other visual changes Tinnitus Loss of balance Confusion Dysarthria Fainting Loss of consciousness These symptoms can last any where from two minutes to over an hour. They are then followed by a throbbing headache which is often along the back of the head and nausea.

What causes Basilar migraine ?

What causes a basilar migraine? The exact underlying cause of basilar migraines is not well understood. Basilar migraines, like all types of migraines, are likely complex disorders that are influenced by multiple genes in combination with lifestyle and environmental factors. Scientists also suspect that nerve abnormalities and/or altered blood flow to certain parts of the brain (brainstem and occipital lobes, specifically) may also play a role in the development of basilar migraines. The susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, episodes of basilar migraines may occur in more than one family member.

Is Basilar migraine inherited ?

Are basilar migraines inherited? In most cases, basilar migraines are not inherited. However, the susceptibility to basilar migraines may rarely be caused by a change (mutation) in the ATP1A2 gene or CACNA1A gene. In these cases, they are inherited in an autosomal dominant manner. This means that to be affected, a person only needs a mutation in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these mutations has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

How to diagnose Basilar migraine ?

How is a basilar migraine diagnosed? A diagnosis of basilar migraine is made based on the presence of characteristic signs and symptoms. Although there are no tests available to confirm the diagnosis, additional testing may be ordered to rule out other conditions that can cause similar features. These tests may include: Brain MRI MR angiogram (MRA) Electroencephalogram 24-hour heart monitor Specialized blood tests

What are the treatments for Basilar migraine ?

How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective. In people with episodes of basilar migraines that are frequent, prolonged, or particularly debilitating, certain medications such as verapamil or topiramate may be prescribed as a preventative therapy.

What is (are) Mitochondrial DNA-associated Leigh syndrome ?

Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.

What are the symptoms of Mitochondrial DNA-associated Leigh syndrome ?

What are the signs and symptoms of Mitochondrial DNA-associated Leigh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial DNA-associated Leigh 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 movement 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nystagmus 90% Respiratory insufficiency 90% Strabismus 90% Ophthalmoparesis 50% Optic atrophy 50% Seizures 50% Abnormal pattern of respiration - Ataxia - Autosomal recessive inheritance - CNS demyelination - Dysarthria - Dystonia - Emotional lability - Failure to thrive - Hepatocellular necrosis - Heterogeneous - Hyperreflexia - Hypertrichosis - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lactic acidosis - Mitochondrial inheritance - Ophthalmoplegia - Phenotypic variability - Pigmentary retinopathy - Progressive - Ptosis - Respiratory failure - Sensorineural hearing impairment - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Schisis association ?

What are the signs and symptoms of Schisis association? The Human Phenotype Ontology provides the following list of signs and symptoms for Schisis association. 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) Anencephaly 90% Cleft palate 90% Non-midline cleft lip 90% Omphalocele 90% Congenital diaphragmatic hernia 50% Encephalocele 50% Spina bifida 50% Microcephaly 7.5% Micromelia 7.5% Renal hypoplasia/aplasia 7.5% Tracheoesophageal fistula 7.5% Urogenital fistula 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Central core disease ?

Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures). Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat. RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.

What are the symptoms of Central core disease ?

What are the signs and symptoms of Central core disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Central core 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) Muscular hypotonia 90% Myopathy 90% Malignant hyperthermia 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital hip dislocation - Fever - Flexion contracture - Generalized muscle weakness - Infantile onset - Kyphoscoliosis - Motor delay - Nemaline bodies - Neonatal hypotonia - Nonprogressive - Pes planus - Phenotypic variability - Skeletal muscle atrophy - Slow progression - Type 1 muscle fiber predominance - 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.

How to diagnose Central core disease ?

How is central core disease diagnosed? Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.

What are the treatments for Central core disease ?

What treatments might be available for central core disease? Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical therapy and occupational therapy assessments to determine which therapies might be most beneficial. Physical therapy, such as stretching or low-impact exercises, may help improve weakness. Some skeletal abnormalities can be addressed with physical therapy, though others may require surgery. As the muscle weakness and scoliosis associated with CCD can affect breathing, individuals diagnosed with this condition may benefit from pulmonary function tests. If breathing is significantly affected, breathing exercises or other breathing support treatments may be recommended. Another treatment option may be a medication called salbutamol, which was found to significantly increased muscle strength and stamina in six of eight children with CCD.

What is (are) Limb dystonia ?

Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. Common examples of limb dystonia include writer's cramp and musician's dystonia. In most cases, the cause of limb dystonia remains unknown. Treatment is challenging. Botulinum toxin injection, oral medications, and physical therapy may help some patients.

What is (are) Currarino triad ?

Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present. Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons. Currarino triad is most often caused by mutations in the MNX1 gene. Treatment depends on the type and severity of abnormalities present, but may involve surgery.

What are the symptoms of Currarino triad ?

What are the signs and symptoms of Currarino triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Currarino triad. 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 sacrum 90% Presacral teratoma 90% Hemisacrum (S2-S5) 75% Bifid sacrum 22% Arteriovenous malformation 7.5% Bifid scrotum 7.5% Displacement of the external urethral meatus 7.5% Hypoplasia of penis 7.5% Lower limb asymmetry 7.5% Male pseudohermaphroditism 7.5% Abdominal distention - Anal atresia - Anal fistula - Anal stenosis - Anterior sacral meningocele - Autosomal dominant inheritance - Bicornuate uterus - Chronic constipation - Gastrointestinal obstruction - Horseshoe kidney - Incomplete penetrance - Neurogenic bladder - Perianal abscess - Rectovaginal fistula - Recurrent urinary tract infections - Septate vagina - Tethered cord - Urinary incontinence - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What causes Currarino triad ?

What causes Currarino triad? Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein. Less frequently, a complex phenotype of Currarino triad can be caused by microdeletions of 7q containing MNX1 (the long arm of chromosome 7 is missing a small piece of DNA which includes MNX1 and other genes).

Is Currarino triad inherited ?

How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. A significant interfamilial (between different families) and intrafamilial (within the same family) variability in expression has been found without any definite correlation to the genetic mutations. This means in one family, a parent might only have one very mild feature of Currarino triad while one of their children might have severe forms of all three features and yet another child might have a mild form of one feature and a severe form of another.

What are the symptoms of Lubinsky syndrome ?

What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky 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 testis 90% Cataract 90% Decreased fertility 90% Autosomal recessive inheritance - Elevated follicle stimulating hormone - Hypogonadism - Infertility - Male hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Tracheobronchomalacia ?

Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood and an acquired form (called secondary TBM) that is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and most people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Most cases of primary TBM are caused by genetic conditions that weaken the walls of the airway, while the secondary form often occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways. Treatment is generally only required in those who have signs and symptoms of the condition and may include stenting, surgical correction, continuous positive airway pressure (CPAP), and tracheostomy.

What are the symptoms of Tracheobronchomalacia ?

What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM. Primary TBM (also called congenital TBM) typically develops during infancy or early childhood, while secondary TBM (also called acquired TBM) is usually seen in adults. Some affected people may initially have no signs or symptoms. However, the condition is typically progressive (becomes worse overtime) and many people will eventually develop characteristic features such as shortness of breath, cough, sputum retention (inability to clear mucus from the respiratory tract), and wheezing or stridor with breathing. Symptoms may become worse during periods of stress (i.e. illness), when reclining, or when forcing a cough. Infants and young children with TBM tend to have more frequent respiratory infections and delayed recovery from these illnesses.

What causes Tracheobronchomalacia ?

What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with mucopolysaccharidoses (such as Hunter syndrome and Hurler syndrome), Ehlers-Danlos Syndrome, and a variety of chromosome abnormalities. Primary TBM can also be idiopathic (unknown cause) or associated with prematurity and certain birth defects (i.e. tracheoesophageal fistula). The secondary form (also called acquired TBM) is caused by the degeneration (break down) of cartilage that typically supports the airways. It is most commonly associated with: Certain medical procedures such as endotracheal intubation or tracheostomy Conditions that lead to chronic (persisting or progressing for a long period of time) inflammation such as relapsing polychondritis or chronic obstructive pulmonary disease (COPD) Cancers, tumors, or cysts that cause prolonged compression of the airway

Is Tracheobronchomalacia inherited ?

Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. These cases occur in people with no history of the disorder in their family. When TBM is part of a genetic condition, it can be passed on to future generations. Secondary TBM (also called acquired TBM) is not inherited. It generally occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways.

How to diagnose Tracheobronchomalacia ?

How is tracheobronchomalacia diagnosed? A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severity of the condition. TBM is considered mild if the trachea narrows to 50% of its initial size while the affected person is breathing out, moderate if it narrows to 25%, and severe if the walls of the trachea touch.

What are the treatments for Tracheobronchomalacia ?

How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury. Initial treatment will target these underlying medical concerns. If symptoms persist, people with TBM may undergo pulmonary function tests or other assessments to help guide therapy choice and allow monitoring of the response to treatment. Treatment options may include: Silicone and/or long-term stenting Surgical correction Continuous positive airway pressure (CPAP) Tracheostomy (often used as a last resort as it can sometimes worsen TBM) We strongly recommend that you discuss your treatment options with a healthcare provider.

What are the symptoms of Johnson neuroectodermal syndrome ?

What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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 genital system 90% Alopecia 90% Abnormality of the eyelashes 50% Abnormality of the pinna 50% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Cognitive impairment 50% Conductive hearing impairment 50% Facial asymmetry 50% Facial palsy 50% Short stature 50% Abnormal nasal morphology 7.5% Abnormality of the sense of smell 7.5% Cafe-au-lait spot 7.5% Choanal atresia 7.5% Cleft palate 7.5% Developmental regression 7.5% Hypohidrosis 7.5% Microcephaly 7.5% Preaxial hand polydactyly 7.5% Tetralogy of Fallot 7.5% Choanal stenosis 5% Decreased testicular size 5% Micropenis 5% Patent ductus arteriosus 5% Retrognathia 5% Right aortic arch 5% Sparse hair 5% Ventricular septal defect 5% Absent eyebrow - Absent eyelashes - Anosmia - Atresia of the external auditory canal - Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - Intellectual disability - Microtia - Multiple cafe-au-lait spots - Protruding ear - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification ?

What are the signs and symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes insipidus nephrogenic mental retardation and intracerebral calcification. 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 90% Abnormality of the antihelix 90% Carious teeth 90% Cerebral calcification 90% Cognitive impairment 90% Hypoplasia of the zygomatic bone 90% Increased number of teeth 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the genital system 50% Conductive hearing impairment 50% Nephrogenic diabetes insipidus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Angel shaped phalangoepiphyseal dysplasia ?

What are the signs and symptoms of Angel shaped phalangoepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Angel shaped phalangoepiphyseal dysplasia. 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 hip bone 50% Delayed eruption of teeth 50% Short stature 50% Delayed skeletal maturation 7.5% Delayed ossification of carpal bones - Hip osteoarthritis - Hyperextensibility of the finger joints - Premature osteoarthritis - Pseudoepiphyses of the metacarpals - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Chromosome 8q24.3 deletion syndrome ?

Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

What are the symptoms of Chromosome 8q24.3 deletion syndrome ?

What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion 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 cardiac septa - Autosomal dominant inheritance - Cerebral atrophy - Clinodactyly - Coloboma - Congenital onset - Feeding difficulties - Hemivertebrae - Hip dislocation - Long philtrum - Microcephaly - Narrow forehead - Phenotypic variability - Renal agenesis - Renal cyst - Renal hypoplasia - Scoliosis - Short 5th finger - Short neck - Short nose - Short stature - Vertebral fusion - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Amelogenesis imperfecta ?

Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.

What are the symptoms of Amelogenesis imperfecta ?

What are the signs and symptoms of amelogenesis imperfecta? In general, the both primary and permanent teeth are affected. The enamel tends to be soft and weak, and the teeth appear yellow and damage easily. The defects associated with amelogeneis imperfecta are highly variable and include abnormalities classified as hypoplastic (defects in the amount of enamel), hypomaturation (defect in the final growth and development of the tooth enamel), and hypocalcification (defect in the initial stage of enamel formation followed by defective tooth growth). The enamel in the hypomaturation and hypocalcification types is not mineralized and is thus described as hypomineralized. Traditionally, the diagnosis and classification of amelogenesis imperfecta is based on the clinical presentation and the mode of inheritance. There are four principal types based on the defects in the tooth enamel. These types are subdivided into 14 different subtypes based on the clinical presentation and the mode of inheritance. Detailed information about the signs and symptoms associated with the four major types of amelogenesis imperfecta is available from the UNC School of Dentistry.

What causes Amelogenesis imperfecta ?

What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder. Click on each gene name to learn more about the role it plays in the development of tooth enamel.

Is Amelogenesis imperfecta inherited ?

How is amelogenesis imperfecta inherited? Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.

How to diagnose Amelogenesis imperfecta ?

How is amelogenesis imperfecta diagnosed? A dentist can identify and diagnose amelogenesis imperfecta on the basis of the patient's family history and the signs and symptoms present in the affected individual. Extraoral X-rays (X-rays taken outside the mouth) can reveal the presence of teeth that never erupted o that were absorbed. Intraoral X-rays (X-rays taken inside the mouth) show contrast between the enamel and dentin in cases in which mineralization is affected. Genetic testing is available for the genes AMELX, ENAM, and MMP20. You can visit the Genetic Testing Registry to locate laboratories performing genetic testing for these genes. The American Academy of Pediatric Dentistry is a source of information to find a pediatric dentist. The National Dental Association can also assist people in locating a dentist.

What are the treatments for Amelogenesis imperfecta ?

How might amelogenesis imperfecta be treated? Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality. Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases. The social and emotional impact of this condition should also be addressed. Detailed information on the treatment of amelogenesis imperfecta is available from the UNC School of Dentistry.

What are the symptoms of Familial episodic pain syndrome ?

What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain 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) Adult onset - Autosomal dominant inheritance - Infantile onset - Pain - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Hepatic venoocclusive disease with immunodeficiency ?

What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. 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 liver - Absence of lymph node germinal center - Autosomal recessive inheritance - Endocardial fibrosis - IgG deficiency - Immunodeficiency - Microcephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Nephrotic syndrome, idiopathic, steroid-resistant ?

What are the signs and symptoms of Nephrotic syndrome, idiopathic, steroid-resistant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome, idiopathic, steroid-resistant. 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 - Edema - Focal segmental glomerulosclerosis - Hyperlipidemia - Hypoalbuminemia - Juvenile onset - Nephrotic syndrome - Proteinuria - Rapidly progressive - Stage 5 chronic kidney disease - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Diamond-Blackfan anemia 3 ?

What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Erythrocyte macrocytosis - Macrocytic anemia - Persistence of hemoglobin F - Reticulocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Desmoid tumor ?

What are the signs and symptoms of Desmoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmoid tumor. 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 abdominal wall 90% Sarcoma 90% Abdominal pain 50% Intestinal polyposis 50% Myalgia 50% Epidermoid cyst 33% Abnormality of retinal pigmentation 7.5% Abnormality of the upper urinary tract 7.5% Arthralgia 7.5% Chest pain 7.5% Gastrointestinal hemorrhage 7.5% Intestinal obstruction 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Sepsis 7.5% Colon cancer 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Von Hippel-Lindau disease ?

Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.

What are the symptoms of Von Hippel-Lindau disease ?

What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure. About 10 percent of people with VHL disease develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Renal cell carcinoma occurs in about 70% of individuals with VHL disease by age 60 and is the leading cause of mortality. The Human Phenotype Ontology provides the following list of signs and symptoms for Von Hippel-Lindau 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 cerebral vasculature 90% Abnormality of the retinal vasculature 90% Aplasia/Hypoplasia of the cerebellum 90% Arteriovenous malformation 90% Neurological speech impairment 90% Nystagmus 90% Pancreatic cysts 90% Renal neoplasm 90% Sensorineural hearing impairment 90% Visceral angiomatosis 90% Gait disturbance 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Incoordination 50% Migraine 50% Multicystic kidney dysplasia 50% Nausea and vomiting 50% Telangiectasia of the skin 50% Visual impairment 50% Abnormality of the lymphatic system 7.5% Abnormality of the macula 7.5% Arrhythmia 7.5% Cataract 7.5% Glaucoma 7.5% Hyperhidrosis 7.5% Hypertensive crisis 7.5% Increased intracranial pressure 7.5% Neoplasm of the middle ear 7.5% Neuroendocrine neoplasm 7.5% Polycystic kidney dysplasia 7.5% Retinal detachment 7.5% Abnormality of the liver - Autosomal dominant inheritance - Cerebellar hemangioblastoma - Epididymal cyst - Hypertension - Multiple renal cysts - Neoplasm of the pancreas - Papillary cystadenoma of the epididymis - Paraganglioma - Phenotypic variability - Pheochromocytoma - Polycythemia - Pulmonary capillary hemangiomatosis - Renal cell carcinoma - Retinal capillary hemangioma - Spinal hemangioblastoma - Tinnitus - Vertigo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What causes Von Hippel-Lindau disease ?

What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.

Is Von Hippel-Lindau disease inherited ?

How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease. In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.

How to diagnose Von Hippel-Lindau disease ?

How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brain and spinal cord fundoscopy ultrasound examination or MRI of the abdomen blood and urinary catecholamine metabolites.

What are the treatments for Von Hippel-Lindau disease ?

How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumors. Radiation therapy may be used in some cases. All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.

What are the symptoms of Dystonia 16 ?

What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. 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 5% Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Delayed speech and language development - Dysarthria - Dysphagia - Gait disturbance - Hyperreflexia - Involuntary movements - Laryngeal dystonia - Limb dystonia - Lower limb pain - Morphological abnormality of the pyramidal tract - Motor delay - Parkinsonism - Postural tremor - Progressive - Retrocollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Frontofacionasal dysplasia ?

What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal dysplasia. 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 involving the nose 90% Blepharophimosis 90% Broad forehead 90% Cleft eyelid 90% Depressed nasal bridge 90% Depressed nasal ridge 90% Facial cleft 90% Hypertelorism 90% Malar flattening 90% Non-midline cleft lip 90% Ptosis 90% Short nose 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the eyelashes 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Encephalocele 50% Epibulbar dermoid 50% Facial asymmetry 50% Iris coloboma 50% Midline defect of the nose 50% Preauricular skin tag 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Choanal atresia 7.5% Microcornea 7.5% Sacrococcygeal pilonidal abnormality 7.5% Absent inner eyelashes - Ankyloblepharon - Autosomal recessive inheritance - Bifid nose - Bifid uvula - Brachycephaly - Cranium bifidum occultum - Frontal cutaneous lipoma - Hypoplasia of midface - Hypoplasia of the frontal bone - Microphthalmia - Oral cleft - S-shaped palpebral fissures - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Ataxia telangiectasia ?

Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.

What are the symptoms of Ataxia telangiectasia ?

What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia telangiectasia. 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 chromosome stability 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Elevated hepatic transaminases 90% Gait disturbance 90% Incoordination 90% Lymphopenia 90% Mucosal telangiectasiae 90% Neurological speech impairment 90% Nystagmus 90% Polycystic ovaries 90% Premature graying of hair 90% Recurrent respiratory infections 90% Strabismus 90% Telangiectasia of the skin 90% Tremor 90% Hypertonia 50% Hypopigmentation of hair 50% Neoplasm 50% Seizures 50% Short stature 50% Skeletal muscle atrophy 50% Abnormality of the testis 7.5% Aplasia/Hypoplasia of the skin 7.5% Cafe-au-lait spot 7.5% Cognitive impairment 7.5% Type II diabetes mellitus 7.5% Abnormal spermatogenesis - Abnormality of the hair - Ataxia - Autosomal recessive inheritance - Bronchiectasis - Choreoathetosis - Conjunctival telangiectasia - Decreased number of CD4+ T cells - Defective B cell differentiation - Delayed puberty - Diabetes mellitus - Dysarthria - Dystonia - Elevated alpha-fetoprotein - Female hypogonadism - Glucose intolerance - Hodgkin lymphoma - Hypoplasia of the thymus - IgA deficiency - Immunoglobulin IgG2 deficiency - Leukemia - Myoclonus - Non-Hodgkin lymphoma - Recurrent bronchitis - Sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Carney triad ?

What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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) Abdominal pain 90% Diarrhea 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Neoplasm of the lung 90% Neoplasm of the stomach 90% Neuroendocrine neoplasm 90% Sarcoma 90% Abnormality of the liver 50% Abnormality of the mediastinum 50% Ascites 50% Hypercortisolism 50% Anemia 7.5% Anorexia 7.5% Arrhythmia 7.5% Hypertension 7.5% Lymphadenopathy 7.5% Migraine 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Meckel syndrome type 2 ?

What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome 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) Dandy-Walker malformation 5% Microphthalmia 5% Anencephaly - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Cleft palate - Encephalocele - Intrauterine growth retardation - Meningocele - Polydactyly - Postaxial hand polydactyly - Renal cyst - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Oculomaxillofacial dysostosis ?

What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. 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 50% Abnormality of the teeth 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Facial cleft 50% Median cleft lip 50% Opacification of the corneal stroma 50% Short stature 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Wide nasal bridge 50% Abnormality of the humerus 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Coloboma 5% Deep palmar crease 5% Abnormality of the skeletal system - Autosomal recessive inheritance - Cleft upper lip - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Disseminated peritoneal leiomyomatosis ?

Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely in men, DPL occurs most often in women of childbearing age. Most women with DPL are pregnant, taking the birth control pill, or have uterine leioyomas or estrogen-secreting tumors. Some people with DPL have no signs or symptoms of the condition. When present, symptoms may include abdominal and pelvic pain; rectal or vaginal bleeding; and less commonly constipation. The cause of DPL is unknown but may be linked to hormonal and genetic factors. Some cases of DPL resolve when hormone levels are returned to normal. However, surgery may be suggested based on the size and location of the tumor.

What are the symptoms of Disseminated peritoneal leiomyomatosis ?

What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding Abnormally heavy bleeding during menstruation (menorrhagia) Constipation Intestinal obstruction DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason.

What causes Disseminated peritoneal leiomyomatosis ?

What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy. DPL is often associated with uterine leiomyomas but the connection is unclear. Most cases occur sporadically in people with no family history of the condition; however, more than one family member can be affected. Although this suggests that genetic factors may play a role in the development of DPL in some families, researchers have not identified any specific gene changes known to cause the condition.The cause of the condition is considered multifactorial .

How to diagnose Disseminated peritoneal leiomyomatosis ?

How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells). The cells usually have both progesterone and estrogen receptors, but this is not always the case. The cells usually have a low mitotic index (meaning they are not dividing at a high rate).

What are the treatments for Disseminated peritoneal leiomyomatosis ?

How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed. However, surgery may be suggested based on the size and location of the tumor.

What are the symptoms of Hyde Forster Mccarthy Berry syndrome ?

What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry 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) Cognitive impairment 90% Plagiocephaly 90% Abnormality of movement 50% Brachycephaly - Coarse facial features - Frontal bossing - Intellectual disability, moderate - Prominent forehead - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Diffuse cutaneous systemic sclerosis ?

What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. 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) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Arthralgia 50% Arthritis 50% Carious teeth 50% Feeding difficulties in infancy 50% Flexion contracture 50% Malabsorption 50% Muscle weakness 50% Osteolysis 50% Pulmonary fibrosis 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Chondrocalcinosis 7.5% Congestive heart failure 7.5% Hypertensive crisis 7.5% Nausea and vomiting 7.5% Pulmonary hypertension 7.5% Renal insufficiency 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ?

What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Subcutaneous hemorrhage 90% Palmoplantar keratoderma 50% Skin ulcer 50% Abnormality of skin pigmentation 7.5% Abnormality of the oral cavity 7.5% Constipation 7.5% Feeding difficulties in infancy 7.5% Neoplasm of the skin 7.5% Atrophic scars 5% Autosomal dominant inheritance - Growth delay - Milia - Nail dysplasia - Nail dystrophy - Neonatal onset - Palmoplantar hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Pheochromocytoma-islet cell tumor syndrome ?

What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor 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) Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Cerebral hemorrhage - Congestive heart failure - Elevated urinary norepinephrine - Episodic hypertension - Hypercalcemia - Hyperhidrosis - Hypertensive retinopathy - Pheochromocytoma - Positive regitine blocking test - Proteinuria - Tachycardia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Meningoencephalocele ?

Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities. The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.

What causes Meningoencephalocele ?

What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases. However, its potential role in causing the condition is unclear. It has also been suggested that folate deficiency during pregnancy might play a role, because the condition is so closely related to spina bifida, which can be caused by folate deficiency. However, there have been no studies regarding the relationship of maternal folate deficiency and meningoencephalocele. Further studies are needed to to clarify what may cause the condition.

Is Meningoencephalocele inherited ?

Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition.

What are the symptoms of Presenile dementia, Kraepelin type ?

What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin 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) Autosomal dominant inheritance - Dementia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Mental retardation, X-linked, nonspecific ?

What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. 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) Seizures 5% Autism - Dental crowding - Hyperactivity - Hypertelorism - Intellectual disability - Intellectual disability, moderate - Joint hypermobility - Mandibular prognathia - Open mouth - Short nose - Synophrys - Tented upper lip vermilion - Uplifted earlobe - Upslanted palpebral fissure - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Oculoectodermal syndrome ?

What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal 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) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Parsonage Turner syndrome ?

Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy.

What are the symptoms of Parsonage Turner syndrome ?

What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks at which point the pain usually begins to subside; however, mild pain may continue for a year or longer. As the pain subsides, it is typically replaced by progressive (worsening over time) weakness of the affected area, ranging from mild weakness to nearly complete paralysis. Affected people may also experience muscle wasting (atrophy); absent or reduced reflexes; and/or loss of sensation. In some cases, nerves and muscles outside of the shoulder and upper arm region may be affected, as well.

What causes Parsonage Turner syndrome ?

What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger PTS include: Infections (both viral and bacterial) Surgery Vaccinations Childbirth Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye Strenuous exercise Certain medical conditions, including connective tissue disorders and autoimmune disorders Injury Some researchers believe that PTS is a multifactorial condition, which means that it is caused by both environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as those listed above).

Is Parsonage Turner syndrome inherited ?

Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. For more information on hereditary neuralgic amyotrophy, please click here.

How to diagnose Parsonage Turner syndrome ?

How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features. These tests may include nerve conduction studies (tests that determine the ability of a specific nerve to relay a message to the brain), electromyography, magnetic resonance imaging (MRI scan) and/or an X-ray.