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 epiphysis morphology | Very frequent (present in 80%-99% of cases) |
| Abnormality of the metaphyses | Very frequent (present in 80%-99% of cases) |
| Femoral bowing | Very frequent (present in 80%-99% of cases) |
| Pear-shaped vertebrae | Very frequent (present in 80%-99% of cases) |
| Spondyloepimetaphyseal dysplasia | Very frequent (present in 80%-99% of cases) |
| Tibial bowing | Very frequent (present in 80%-99% of cases) |
| Coxa vara | Frequent (present in 30%-79% of cases) |
| Genu varum | Frequent (present in 30%-79% of cases) |
| Osteoarthritis | Frequent (present in 30%-79% of cases) |
| Short lower limbs | Frequent (present in 30%-79% of cases) |
| Limitation of joint mobility | Occasional (present in 5%-29% of cases) |
| Autosomal dominant inheritance | - |
| Delayed skeletal maturation | - |
| Flared iliac wings | - |
| Flared metaphysis | - |
| Flared, irregular rib ends | - |
| Flattened epiphysis | - |
| Irregular sclerotic endplates | - |
| Limited elbow extension | - |
| Metaphyseal cupping | - |
| Platyspondyly | - |
| Radial bowing | - |
| Rhizomelia | - |
| Small epiphyses | - |
| Ulnar bowing | - |
| Waddling gait | - |
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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.
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