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 | 50% |
| Delayed eruption of teeth | 50% |
| Short stature | 50% |
| Delayed skeletal maturation | 7.5% |
| Delayed ossification of carpal bones | - |
| Hip osteoarthritis | - |
| Hyperextensibility of the finger joints | - |
| Premature osteoarthritis | - |
| Pseudoepiphyses of the metacarpals | - |
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.
