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)|
|Wide nasal bridge||90%|
|Camptodactyly of finger||50%|
|Camptodactyly of toe||50%|
|Clinodactyly of the 5th finger||50%|
|Median cleft lip||50%|
|Non-midline cleft lip||50%|
|Displacement of the external urethral meatus||7.5%|
|Agenesis of central incisor||-|
|Agenesis of maxillary central incisor||-|
|Broad nasal tip||-|
|Depressed nasal bridge||-|
|Frontal upsweep of hair||-|
|Hypoplasia of the ulna||-|
|Joint contracture of the hand||-|
|Radial deviation of finger||-|
|Submucous cleft hard palate||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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