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)|
|Abnormal form of the vertebral bodies||90%|
|Abnormal hair quantity||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the elbow||90%|
|Abnormality of the fontanelles or cranial sutures||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the humerus||90%|
|Abnormality of the knee||90%|
|Abnormality of the pulmonary artery||90%|
|Abnormality of the tongue||90%|
|Depressed nasal bridge||90%|
|Limitation of joint mobility||90%|
|Preaxial hand polydactyly||90%|
|Short distal phalanx of finger||90%|
|Autosomal recessive inheritance||-|
|Bifid distal phalanx of the thumb||-|
|Complete duplication of thumb phalanx||-|
|Wide anterior fontanel||-|
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.