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)|
|Neurological speech impairment||50%|
|Abnormality of calvarial morphology||7.5%|
|Abnormality of the voice||7.5%|
|Aplasia/Hypoplasia of the earlobes||7.5%|
|Coarse facial features||7.5%|
|Everted lower lip vermilion||7.5%|
|Hypoplasia of penis||7.5%|
|Preauricular skin tag||7.5%|
|Reduced number of teeth||7.5%|
|Toxemia of pregnancy||7.5%|
|Broad nasal tip||-|
|Decreased muscle mass||-|
|Decreased testicular size||-|
|Deeply set eye||-|
|Delayed speech and language development||-|
|Misalignment of teeth||-|
|Prominent supraorbital ridges||-|
|X-linked dominant inheritance||-|
|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.
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.