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 nose | 90% |
| Abnormality of the philtrum | 90% |
| Abnormality of the pinna | 90% |
| Abnormality of the skin | 90% |
| Cryptorchidism | 90% |
| Epicanthus | 90% |
| Genu valgum | 90% |
| Hypertelorism | 90% |
| Hypoplasia of the zygomatic bone | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Ptosis | 90% |
| Shawl scrotum | 90% |
| Telecanthus | 90% |
| Abnormality of coagulation | 50% |
| Abnormality of the fontanelles or cranial sutures | 50% |
| Abnormality of the voice | 50% |
| Cognitive impairment | 50% |
| Cubitus valgus | 50% |
| Joint hypermobility | 50% |
| Low posterior hairline | 50% |
| Mandibular prognathia | 50% |
| Neurological speech impairment | 50% |
| Umbilical hernia | 50% |
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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