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)|
|Underdeveloped nasal alae||90%|
|Abnormality of the eyelashes||50%|
|External ear malformation||50%|
|Non-midline cleft lip||50%|
|Sparse lateral eyebrow||50%|
|Abnormality of the voice||7.5%|
|Hernia of the abdominal wall||7.5%|
|Low posterior hairline||7.5%|
|Reduced number of teeth||7.5%|
|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.