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 pharynx | 90% |
| Abnormality of the ribs | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Recurrent respiratory infections | 90% |
| Respiratory insufficiency | 90% |
| Vertebral segmentation defect | 90% |
| Abnormality of the antitragus | 50% |
| Aplasia/Hypoplasia of the tongue | 50% |
| Arachnodactyly | 50% |
| Choanal atresia | 50% |
| Clinodactyly of the 5th finger | 50% |
| Epicanthus | 50% |
| Joint hypermobility | 50% |
| Overfolded helix | 50% |
| Polyhydramnios | 50% |
| Premature birth | 50% |
| Wide nasal bridge | 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.
