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 palate | 90% |
| Abnormality of the pinna | 90% |
| Branchial anomaly | 90% |
| Conductive hearing impairment | 90% |
| Hypoplasia of the zygomatic bone | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Microcephaly | 90% |
| Prominent nasal bridge | 90% |
| Sensorineural hearing impairment | 90% |
| Short stature | 90% |
| Triangular face | 90% |
| Webbed neck | 90% |
| Aplasia/Hypoplasia of the eyebrow | 50% |
| Cryptorchidism | 50% |
| Epicanthus | 50% |
| Abnormality of the mitral valve | 7.5% |
| Abnormality of the pulmonary artery | 7.5% |
| Abnormality of the pulmonary valve | 7.5% |
| Asymmetric growth | 7.5% |
| Facial asymmetry | 7.5% |
| Pectus excavatum | 7.5% |
| Ptosis | 7.5% |
| Hearing impairment | - |
| High palate | - |
| Low-set ears | - |
| Protruding ear | - |
| Pulmonic stenosis | - |
| Specific learning disability | - |
| X-linked inheritance | - |
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.
