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)|
|Abnormality of the foot||90%|
|Abnormality of the metacarpal bones||90%|
|Conductive hearing impairment||90%|
|Low anterior hairline||90%|
|Reduced number of teeth||90%|
|Abnormality of bone mineral density||50%|
|Aplasia/Hypoplasia involving the nose||50%|
|Patent ductus arteriosus||50%|
|Bifid nasal tip||5%|
|Low posterior hairline||5%|
|Autosomal recessive inheritance||-|
|Hypoplasia of the maxilla||-|
|Hypoplastic labia majora||-|
|Narrow palpebral fissure||-|
|Posteriorly rotated ears||-|
|Short distal phalanx of finger||-|
|Short distal phalanx of toe||-|
|Underdeveloped supraorbital ridges||-|
|Upper eyelid coloboma||-|
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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.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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