Recessive Multiple Epiphyseal Dysplasia

What is 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 that usually begins in late childhood; malformations of the hands, feet, and knees; and abnormal curvature of the spine (scoliosis). 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.

How common is recessive multiple epiphyseal dysplasia?

The incidence of recessive multiple epiphyseal dysplasia is unknown. The disorder may be more common than researchers suspect, however. Some affected people may never be diagnosed because the features of the condition are often mild.

What genes are related to recessive multiple epiphyseal dysplasia?

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. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. 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.

How do people inherit recessive multiple epiphyseal dysplasia?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for recessive multiple epiphyseal dysplasia?

• EDM4
• Epiphyseal dysplasia, multiple, 4
• Multiple epiphyseal dysplasia, autosomal recessive
• rMED