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) |
| Intellectual disability | 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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