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 voice||90%|
|Delayed speech and language development||55%|
|Aplasia of the pectoralis major muscle||50%|
|Everted lower lip vermilion||50%|
|Feeding difficulties in infancy||50%|
|Opacification of the corneal stroma||50%|
|Abnormality of the sense of smell||7.5%|
|Abnormality of the ulna||7.5%|
|Aplasia/Hypoplasia of the radius||7.5%|
|Aplasia/Hypoplasia of the thumb||7.5%|
|Aplasia/Hypoplasia of the tongue||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Reduced number of teeth||7.5%|
|Skeletal muscle atrophy||7.5%|
|Abnormality of pelvic girdle bone morphology||-|
|Abnormality of the nail||-|
|Abnormality of the nasopharynx||-|
|Abnormality of the pinna||-|
|Abnormality of the posterior cranial fossa||-|
|Aplasia/Hypoplasia involving the metacarpal bones||-|
|Autosomal dominant inheritance||-|
|Congenital fibrosis of extraocular muscles||-|
|Decreased testicular size||-|
|Depressed nasal bridge||-|
|Hypoplasia of the brainstem||-|
|Infantile muscular hypotonia||-|
|Intellectual disability, mild||-|
|Lower limb undergrowth||-|
|Radial deviation of finger||-|
|Short phalanx of finger||-|
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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. Submit a new question