Mutations in the SLC26A2 (DTDST) gene, located at human chromosome 5q32-33.1, are the cause of ARMED. It is considered a milder disorder within a spectrum of skeletal disorders caused by mutations in the gene, which encodes a protein that is essential for the normal development of cartilage and its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in associated skeletal maldevelopment. The disorder is inherited in an<unk><unk>  manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an<unk><unk>  disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Autosomal recessive multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia
Metaphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
Spondylo-meta-epiphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloperipheral dysplasia
Spondyloepimetaphyseal dysplasia