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)|
|Clinodactyly of the 5th finger||90%|
|Wide nasal bridge||90%|
|Abnormality of the teeth||50%|
|Delayed skeletal maturation||50%|
|Thickened nuchal skin fold||50%|
|Autosomal dominant inheritance||-|
|Hyperextensible hand joints||-|
|Posteriorly rotated ears||-|
|Prominent fingertip pads||-|
|Prominent nasal bridge||-|
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.