Spondyloepiphyseal dysplasia tarda, X-linked
Spondyloepiphyseal dysplasia tarda, X-linked (SEDT; MIM 313400) is caused by mutations in the SEDL gene. Thus, it is distinct from COL2A1- related spondyloepiphyseal dysplasias. Onset is typically seen in males between the ages of 10-14 years. Patients have a short trunk, vertebral flattening with a characteristic abnormal accumulation of bone, mild epiphyseal dysplasia of the large joints, precocious arthritis, and ochronosis of intervertebral discs. Severe osteoarthritis may necessitate total hip arthroplasty before 40 years of age. Obligate heterozygous females may display X-ray changes, bone pain and arthritis.