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) |
| Abnormal cortical bone morphology | 90% |
| Abnormality of epiphysis morphology | 90% |
| Abnormality of the metaphyses | 90% |
| Abnormality of the ulna | 90% |
| Abnormality of the wrist | 90% |
| Anteverted nares | 90% |
| Aplasia/Hypoplasia of the sacrum | 90% |
| Brachydactyly syndrome | 90% |
| Delayed skeletal maturation | 90% |
| Limitation of joint mobility | 90% |
| Myopia | 90% |
| Osteoarthritis | 90% |
| Rough bone trabeculation | 90% |
| Round face | 90% |
| Sensorineural hearing impairment | 90% |
| Short palm | 90% |
| Tarsal synostosis | 90% |
| Abnormal form of the vertebral bodies | 50% |
| Abnormality of the femur | 50% |
| Abnormality of the hip bone | 50% |
| Arthralgia | 50% |
| Clinodactyly of the 5th finger | 50% |
| Gait disturbance | 50% |
| Malar flattening | 50% |
| Micromelia | 50% |
| Patellar aplasia | 50% |
| Scoliosis | 50% |
| Short stature | 50% |
| Talipes | 50% |
| Anonychia | 7.5% |
| Genu valgum | 7.5% |
| Genu varum | 7.5% |
| Hearing abnormality | 7.5% |
| Abnormality of the hip joint | - |
| Arthralgia of the hip | - |
| Autosomal dominant inheritance | - |
| Autosomal recessive inheritance | - |
| Avascular necrosis of the capital femoral epiphysis | - |
| Broad femoral neck | - |
| Coxa vara | - |
| Delayed epiphyseal ossification | - |
| Delayed ossification of carpal bones | - |
| Delayed tarsal ossification | - |
| Disproportionate short-limb short stature | - |
| Elevated serum creatine phosphokinase | - |
| Epiphyseal dysplasia | - |
| Flat capital femoral epiphysis | - |
| Flattened epiphysis | - |
| Generalized joint laxity | - |
| Hip dysplasia | - |
| Hip osteoarthritis | - |
| Hypoplasia of the capital femoral epiphysis | - |
| Hypoplasia of the femoral head | - |
| Irregular epiphyses | - |
| Irregular vertebral endplates | - |
| Joint stiffness | - |
| Knee osteoarthritis | - |
| Limited elbow flexion | - |
| Limited hip movement | - |
| Metaphyseal irregularity | - |
| Mild short stature | - |
| Multiple epiphyseal dysplasia | - |
| Ovoid vertebral bodies | - |
| Premature osteoarthritis | - |
| Proximal muscle weakness | - |
| Short femoral neck | - |
| Short metacarpal | - |
| Short phalanx of finger | - |
| Small epiphyses | - |
| Talipes equinovarus | - |
| Waddling gait | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location:
New London,
NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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. Submit a new question
I have a 9 year old patient with this disorder who has hearing loss. Is hearing loss associated with this disorder? If so, is the hearing loss progressive? Is the loss sensorineural, conductive, or mixed? See answer
I have a friend who has been diagnosed with multiple epiphyseal dysplasia. There is no other incidence of the condition within his family however his mother was born with a cleft palate. He believes he has passed on his mutation to both of his children. Based on this information do you think that his mutation is a result of random mutation or could there be a link between his mothers cleft palate and his condition? Is this condition dominant? And if so, what is the likelihood he could pass it on to his next child? See answer
