Orpha Number: 251056
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) |
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Sensorineural hearing impairment | Very frequent (present in 80%-99% of cases) |
| Abnormality of the pinna | Frequent (present in 30%-79% of cases) |
| Abnormality of vision | Frequent (present in 30%-79% of cases) |
| Agenesis of |
Frequent (present in 30%-79% of cases) |
| Downslanted palpebral fissures | Frequent (present in 30%-79% of cases) |
| Epicanthus | Frequent (present in 30%-79% of cases) |
| Failure to thrive | Frequent (present in 30%-79% of cases) |
| High palate | Frequent (present in 30%-79% of cases) |
| Hypertelorism | Frequent (present in 30%-79% of cases) |
| Low-set, posteriorly rotated ears | Frequent (present in 30%-79% of cases) |
| Malar flattening | Frequent (present in 30%-79% of cases) |
| Plagiocephaly | Frequent (present in 30%-79% of cases) |
| Wide nasal bridge | Frequent (present in 30%-79% of cases) |
| Abnormality of cardiovascular system morphology | Occasional (present in 5%-29% of cases) |
| Camptodactyly of finger | Occasional (present in 5%-29% of cases) |
| Clinodactyly of the 5th finger | Occasional (present in 5%-29% of cases) |
| External genital hypoplasia | Occasional (present in 5%-29% of cases) |
| Long philtrum | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Neonatal |
Occasional (present in 5%-29% of cases) |
| Rocker bottom foot | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Upslanted palpebral fissure | Occasional (present in 5%-29% of cases) |
| Ventriculomegaly | Occasional (present in 5%-29% of cases) |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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