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 vertebral ossification | 90% |
| Anteverted nares | 90% |
| Depressed nasal bridge | 90% |
| Epiphyseal stippling | 90% |
| Short nose | 90% |
| Anonychia | 50% |
| Brachydactyly syndrome | 50% |
| Cognitive impairment | 50% |
| Intrauterine growth retardation | 50% |
| Respiratory insufficiency | 50% |
| Short distal phalanx of finger | 50% |
| Short neck | 50% |
| Abnormality of the outer ear | 7.5% |
| Abnormality of the tongue | 7.5% |
| Aplasia/Hypoplasia affecting the eye | 7.5% |
| Cataract | 7.5% |
| Choanal atresia | 7.5% |
| Hearing impairment | 7.5% |
| Hydrocephalus | 7.5% |
| Hypertelorism | 7.5% |
| Muscular hypotonia | 7.5% |
| Myelomeningocele | 7.5% |
| Optic atrophy | 7.5% |
| Proptosis | 7.5% |
| Seizures | 7.5% |
| Visual impairment | 7.5% |
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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