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Multiple Epiphyseal Dysplasia(MED) is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs. There are two types of this disease, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with this have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.
Recessive MED is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine. About 50 percent of individuals with recessive MED are born with at least one abnormal feature, including an inward- and downward-turning foot, an opening in the roof of the mouth, an unusual curving of the fingers or toes, or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.
A waddling gait
Pain in the joints and fatigue after exercise
Progressive worsening of pain and joint stiffness and deformity
Reduced height in adults with limbs relatively short in comparison with the trunk
This condition is inherited in an autosomal recessive pattern, the incidence is unknown as many cases are not diagnosed due to mild symptoms.
Recessive MED has an autosomal recessive pattern of inheritance.
Mutations in the SLC26A2 gene cause recessive MED. Recessive multiple epiphyseal dysplasia is the mildest condition in a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of recessive multiple epiphyseal dysplasia.
Patients should be counselled with regards to the nature of their condition and offered genetic testing/counselling if they desire it. Avoiding high contact sports and keeping within a normal weight range is advised. Surgical correction of alignment, via osteotomy can help distribute weight more evenly. Joint replacement surgery is often undertaken during adulthood.