Orpha Number: 93356
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 metaphysis | 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) |
| - | |
| 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 | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
