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 nail color||50%|
|Abnormality of retinal pigmentation||50%|
|Abnormality of the toenails||50%|
|Abnormality of the pinna||7.5%|
|Abnormality of the pleura||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Atria septal defect||7.5%|
|Thick lower lip vermilion||7.5%|
|Underdeveloped supraorbital ridges||7.5%|
|Upslanted palpebral fissure||7.5%|
|Autosomal dominant inheritance||-|
|Broad nasal tip||-|
|Depressed nasal bridge||-|
|Intellectual disability, mild||-|
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.