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 foot | 90% |
| Abnormality of the metacarpal bones | 90% |
| Coarse hair | 90% |
| Cognitive impairment | 90% |
| Conductive hearing impairment | 90% |
| Craniosynostosis | 90% |
| Hypertelorism | 90% |
| Hypertrichosis | 90% |
| Low anterior hairline | 90% |
| Nystagmus | 90% |
| Reduced number of teeth | 90% |
| Short stature | 90% |
| Abnormality of bone mineral density | 50% |
| Aplasia/Hypoplasia involving the nose | 50% |
| Astigmatism | 50% |
| Patent ductus arteriosus | 50% |
| Sclerocornea | 50% |
| Umbilical hernia | 50% |
| Cleft eyelid | 7.5% |
| Anonychia | 5% |
| Bifid nasal tip | 5% |
| Cutaneous syndactyly | 5% |
| Low posterior hairline | 5% |
| Small nail | 5% |
| Synophrys | 5% |
| Autosomal recessive inheritance | - |
| Brachycephaly | - |
| Coronal craniosynostosis | - |
| Dental malocclusion | - |
| High palate | - |
| Hypermetropia | - |
| Hypodontia | - |
| Hypoplasia of the maxilla | - |
| Hypoplastic labia majora | - |
| Malar flattening | - |
| Microdontia | - |
| Microphthalmia | - |
| Midface retrusion | - |
| Narrow palate | - |
| Narrow palpebral fissure | - |
| Posteriorly rotated ears | - |
| Ptosis | - |
| Short distal phalanx of finger | - |
| Short distal phalanx of toe | - |
| Underdeveloped supraorbital ridges | - |
| Upper eyelid coloboma | - |
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.
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