X-linked spondyloepiphyseal dysplasia tarda

A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.

Signs and symptoms

• Barrel-shaped chest
• Hump-shaped mound of bone in central and posterior portions of vertebral endplate
• Short femoral neck
• Platyspondyly
• Postnatal growth retardation
• Back pain
• Disproportionate short-trunk short stature
• Opacification of the corneal stroma
• Scoliosis
• Limitation of joint mobility