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 hip bone | 90% |
| Abnormality of the metaphyses | 90% |
| Abnormality of the ulna | 90% |
| Aplasia/Hypoplasia of the radius | 90% |
| Delayed skeletal maturation | 90% |
| Abnormal form of the vertebral bodies | 50% |
| Abnormality of the fibula | 50% |
| Abnormality of the metacarpal bones | 50% |
| Short stature | 50% |
| Abnormality of the voice | 7.5% |
| Depressed nasal ridge | 7.5% |
| Microdontia | 7.5% |
| Nephrolithiasis | 7.5% |
| Abnormality of the vertebral column | - |
| Autosomal dominant inheritance | - |
| Coxa valga | - |
| Hypercalcemia | - |
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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