Spondyloepiphyseal Dysplasia
Congenita, Tarda
Congenital spondyloepiphyseal dysplasia is an inherited chondrodysplasia with short stature, which is
associated with a short trunk due to a growth disorder of the
spine and epiphysis of the limbs. Platyspondyly, os
odontoideum with or without atlantoaxial instability and
epiphyseal dysplasia of the femoral head are also common. Th
is deformity occurs through a mutation in the COL2A1
gene encoding type II procollagen. Spondyloepiphyseal dysplasia tarda is an X-linked
recessive
progressive osteochondrodysplasia that is
characterized by defective growth and “champagne bottle”
shaped vertebrae. Th e disorder manifests in
childhood with disproportionate short stature, short neck and
trunk and a broad chest. Heterozygous carrier females are
generally clinically and radiographically normal; the disease aff ects males only. It can associate with
progressive arthropathy
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