Recessive multiple epiphyseal dysplasia (rMED) is an inherited disease that causes bone deformities and joint pain. Unlike people with related diseases, those with rMED typically reach normal height and live normal lifespans.
Half of people with rMED are born with an obvious bone abnormality such as cleft palate, club foot, or an inwardly-curved pinky finger. Some also have a mild curvature of the spine (scoliosis).
All people with the disease develop joint pain, often late in childhood. Pain is most common in the hips and knees but can also occur in the wrists, fingers, and elsewhere.
It is unknown how many children are affected by recessive multiple epiphyseal dysplasia. Researchers believe it may be more common than realized due to people with mild symptoms who go undiagnosed.
Recessive multiple epiphyseal dysplasia is usually treated through a combination of targeted muscle strengthening exercises and non-steroidal anti-inflammatory drugs (NSAIDs). People with the disease should avoid sports and activities that stress their joints. Obesity too can put strain on the joints. In some circumstances, surgery may be useful.
People with recessive multiple epiphyseal dysplasia can live normal lifepans and can perform most daily activities, provided these don't stress the joints. Despite joint pain and some bone and joint abnormalities, people with rMED can live normal, healthy lives.
A medical database of genetic disorders funded by the National Institutes of Health and developed at the University of Washington, Seattle. Much of the language in GeneReviews is meant for physicians and other scientists.
Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health. Note that the article refers to both dominant and recessive forms of the disease.
A group within Cedars Sinai Medical Center, it collects research into the diagnosis and management of skeletal dysplasias including recessive multiple epiphyseal dysplasia.
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