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 antihelix||90%|
|Abnormality of the antitragus||90%|
|Abnormality of the palate||90%|
|Abnormality of the tragus||90%|
|Abnormality of the voice||90%|
|Aplasia/Hypoplasia of the earlobes||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Downturned corners of mouth||90%|
|Highly arched eyebrow||90%|
|Hypoplasia of the zygomatic bone||90%|
|Underdeveloped nasal alae||90%|
|Wide nasal bridge||90%|
|Hernia of the abdominal wall||50%|
|Low-set, posteriorly rotated ears||50%|
|Camptodactyly of finger||7.5%|
|Abnormality of the pinna||2/2|
|Abnormality of the skin||2/2|
|Depressed nasal tip||2/2|
|High, narrow palate||2/2|
|Highly arched eyebrow||2/2|
|Posteriorly rotated ears||2/2|
|Sparse and thin eyebrow||2/2|
|Underdeveloped nasal alae||2/2|
|Wide nasal bridge||2/2|
|Autosomal dominant inheritance||-|
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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