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 | 90% |
| Abnormality of periauricular region | 90% |
| Abnormality of the clavicle | 90% |
| Abnormality of the palate | 90% |
| Anteverted nares | 90% |
| Cognitive impairment | 90% |
| Conductive hearing impairment | 90% |
| Depressed nasal bridge | 90% |
| Full cheeks | 90% |
| Hyperreflexia | 90% |
| Hypertonia | 90% |
| Macrotia | 90% |
| Neurological speech impairment | 90% |
| Short stature | 90% |
| Sprengel anomaly | 90% |
| Abnormality of the antihelix | 50% |
| Delayed skeletal maturation | 50% |
| Atresia of the external auditory canal | 7.5% |
| Facial asymmetry | 7.5% |
| Renal hypoplasia/aplasia | 7.5% |
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.
