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 nose||90%|
|Clinodactyly of the 5th finger||90%|
|Low-set, posteriorly rotated ears||90%|
|Abnormality of the hip bone||50%|
|Aplasia/Hypoplasia of the earlobes||50%|
|Increased number of teeth||50%|
|Neurological speech impairment||50%|
|Abnormality of the pupil||7.5%|
|Abnormality of the ribs||7.5%|
|Delayed skeletal maturation||7.5%|
|Hernia of the abdominal wall||7.5%|
|Reduced bone mineral density||7.5%|
|11 pairs of ribs||-|
|Abnormality of the skin||-|
|Abnormality of the teeth||-|
|Radial deviation of finger||-|
|X-linked recessive inheritance||-|
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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