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 metacarpal bones||90%|
|Synostosis of carpal bones||90%|
|Aplasia/Hypoplasia of the radius||50%|
|Aplasia/Hypoplasia of the thumb||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of dental enamel||7.5%|
|Abnormality of the hip bone||7.5%|
|Abnormality of the palate||7.5%|
|Abnormality of the pinna||7.5%|
|Abnormality of the ribs||7.5%|
|Convex nasal ridge||7.5%|
|Hypoplasia of the zygomatic bone||7.5%|
|Reduced number of teeth||7.5%|
|Vertebral segmentation defect||7.5%|
|Autosomal recessive inheritance||-|
|Hypoplasia of the radius||-|
|Hypoplasia of the ulna||-|
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.
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.