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%|
|Aplasia/Hypoplasia of the cerebellum||90%|
|Abnormality of the hypothalamus-pituitary axis||50%|
|Cleft upper lip||50%|
|Hernia of the abdominal wall||7.5%|
|Highly arched eyebrow||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Prominent nasal bridge||7.5%|
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.