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 antihelix | Very frequent (present in 80%-99% of cases) |
| Anotia | Very frequent (present in 80%-99% of cases) |
| Anteverted nares | Very frequent (present in 80%-99% of cases) |
| Blepharophimosis | Very frequent (present in 80%-99% of cases) |
| Brachycephaly | Very frequent (present in 80%-99% of cases) |
| High palate | Very frequent (present in 80%-99% of cases) |
| Hypertelorism | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Long philtrum | Very frequent (present in 80%-99% of cases) |
| Low posterior hairline | Very frequent (present in 80%-99% of cases) |
| Low-set ears | Very frequent (present in 80%-99% of cases) |
| Malar flattening | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Microtia | Very frequent (present in 80%-99% of cases) |
| Proximal placement of thumb | Very frequent (present in 80%-99% of cases) |
| Short neck | Very frequent (present in 80%-99% of cases) |
| Thin nail | Very frequent (present in 80%-99% of cases) |
| Trigonocephaly | Very frequent (present in 80%-99% of cases) |
| Webbed neck | Very frequent (present in 80%-99% of cases) |
| Wide intermamillary distance | Very frequent (present in 80%-99% of cases) |
| Abnormality of the dentition | Frequent (present in 30%-79% of cases) |
| Abnormality of the tarsal bones | Frequent (present in 30%-79% of cases) |
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Epicanthus | Frequent (present in 30%-79% of cases) |
| Highly arched eyebrow | Frequent (present in 30%-79% of cases) |
| Hypertonia | Frequent (present in 30%-79% of cases) |
| Hypospadias | Frequent (present in 30%-79% of cases) |
| Limitation of joint mobility | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Muscular |
Frequent (present in 30%-79% of cases) |
| Narrow mouth | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Frequent (present in 30%-79% of cases) |
|
| Frequent (present in 30%-79% of cases) |
|
| Short nose | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Synophrys | Frequent (present in 30%-79% of cases) |
| Thick eyebrow | Frequent (present in 30%-79% of cases) |
| Upslanted palpebral fissure | Frequent (present in 30%-79% of cases) |
| Abnormality of cardiovascular system morphology | Occasional (present in 5%-29% of cases) |
| Abnormality of the ribs | Occasional (present in 5%-29% of cases) |
| Agenesis of |
Occasional (present in 5%-29% of cases) |
| Atresia of the external auditory canal | Occasional (present in 5%-29% of cases) |
| Bilateral single transverse palmar creases | Occasional (present in 5%-29% of cases) |
| Calvarial skull defect | Occasional (present in 5%-29% of cases) |
| Choanal atresia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Downslanted palpebral fissures | Occasional (present in 5%-29% of cases) |
| Microphthalmia | Occasional (present in 5%-29% of cases) |
| Postaxial hand |
Occasional (present in 5%-29% of cases) |
| Ureteropelvic junction obstruction | Occasional (present in 5%-29% of cases) |
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.
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.
