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)|
|Sacrococcygeal pilonidal abnormality||90%|
|Abnormality of the musculature||7.5%|
|Abnormality of the scrotum||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Congestive heart failure||7.5%|
|Displacement of the external urethral meatus||7.5%|
|External ear malformation||7.5%|
|Lower limb asymmetry||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Neoplasm of the nervous system||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Abnormality of the skin||-|
|Autosomal dominant inheritance||-|
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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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