The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal hair quantity||90%|
|Abnormality of the eyelashes||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Hypoplasia of the zygomatic bone||90%|
|Neurological speech impairment||90%|
|Underdeveloped nasal alae||90%|
|Abnormality of female external genitalia||50%|
|Aplasia/Hypoplasia of the nipples||50%|
|Camptodactyly of finger||50%|
|Hypoplasia of penis||50%|
|Opacification of the corneal stroma||50%|
|Abnormality of skin pigmentation||7.5%|
|Atresia of the external auditory canal||7.5%|
|Depressed nasal bridge||7.5%|
|Thin vermilion border||7.5%|
|Short upper lip||5%|
|Abnormal nasal morphology||-|
|Autosomal recessive inheritance||-|
|Delayed speech and language development||-|
|Microtia, third degree||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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