Definitions

autosomal recessive

Recessive multiple epiphyseal dysplasia

Recessive multiple epiphyseal dysplasia is a disorder of cartilage and bone development. This condition has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.

Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height.

Genetic prevalence

This condition is inherited in an autosomal recessive pattern, the incidence is unknown as many cases are not diagnosed due to mild symptoms.

Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia. 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.

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