Orpha Number: 2792
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) |
| Abnormal dermatoglyphics | Very frequent (present in 80%-99% of cases) |
| Abnormality of the clavicle | Very frequent (present in 80%-99% of cases) |
| Anteverted nares | Very frequent (present in 80%-99% of cases) |
| Conductive hearing impairment | Very frequent (present in 80%-99% of cases) |
| Down-sloping shoulders | Very frequent (present in 80%-99% of cases) |
| Full cheeks | Very frequent (present in 80%-99% of cases) |
| High palate | Very frequent (present in 80%-99% of cases) |
| Hyperreflexia | Very frequent (present in 80%-99% of cases) |
| Hypertonia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Macrotia | Very frequent (present in 80%-99% of cases) |
| Neurological speech impairment | Very frequent (present in 80%-99% of cases) |
| Preauricular pit | Very frequent (present in 80%-99% of cases) |
| Protruding ear | Very frequent (present in 80%-99% of cases) |
| Scapular winging | Very frequent (present in 80%-99% of cases) |
| Abnormality of the antihelix | Frequent (present in 30%-79% of cases) |
| Delayed skeletal maturation | Frequent (present in 30%-79% of cases) |
| Atresia of the external auditory canal | Occasional (present in 5%-29% of cases) |
| Facial asymmetry | Occasional (present in 5%-29% of cases) |
| Renal hypoplasia/aplasia | Occasional (present in 5%-29% of cases) |
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.
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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