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 hip bone||90%|
|Coarse facial features||90%|
|High anterior hairline||90%|
|Highly arched eyebrow||90%|
|Limitation of joint mobility||90%|
|Low-set, posteriorly rotated ears||90%|
|Decreased body weight||50%|
|Low posterior hairline||50%|
|Abnormality of the femur||7.5%|
|Abnormality of the knee||7.5%|
|Abnormality of the metaphyses||7.5%|
|Abnormality of the voice||7.5%|
|Reduced bone mineral density||7.5%|
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.