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) |
| Autosomal recessive inheritance | - |
| Brachydactyly syndrome | - |
| Coronal craniosynostosis | - |
| Flat face | - |
| Genu valgum | - |
| Hearing impairment | - |
| High forehead | - |
| Narrow mouth | - |
| Patellar dislocation | - |
| Proptosis | - |
| Short foot | - |
| Short metacarpal | - |
| Short nose | - |
| Short stature | - |
| Short toe | - |
| Wide nasal bridge | - |
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.
