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 epiphysis morphology||90%|
|Abnormality of the hip bone||90%|
|Abnormality of the thumb||90%|
|Abnormality of the tibia||90%|
|Abnormality of the ulna||90%|
|Aplasia/Hypoplasia of the radius||90%|
|Limitation of joint mobility||90%|
|Narrow nasal bridge||90%|
|Single transverse palmar crease||90%|
|Synostosis of carpal bones||90%|
|Deformed tarsal bones||50%|
|Deviation of finger||50%|
|Malaligned carpal bone||50%|
|Short phalanx of finger||50%|
|Autosomal recessive inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.