GTR Home > Conditions/Phenotypes > Spondyloepiphyseal dysplasia tarda

Disease characteristics

Excerpted from the GeneReview: X-Linked Spondyloepiphyseal Dysplasia Tarda
In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit retarded linear growth beginning around age six to eight years. Final adult height is typically 4'10" to 5'6". Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved but to a variable degree. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared. Motor and cognitive milestones are normal.

Available tests

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Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334, TRAPPC2
    Summary: trafficking protein particle complex 2

Clinical features

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  • Coxa vara
  • Short neck
  • Shield chest
  • hump-shaped mound of bone in central and posterior portions of vertebral endplate
  • Kyphosis
  • Irregular epiphyses
  • Hypoplastic iliac wings
  • Opacification of the corneal stroma
  • Short femoral neck
  • Platyspondyly
  • Arthralgia
  • Limitation of joint mobility
  • Barrel-shaped chest
  • Scoliosis
  • Spondyloepiphyseal dysplasia
  • Lumbar hyperlordosis
  • Hypoplasia of the capital femoral epiphysis
  • Disproportionate short-trunk short stature
  • Hip osteoarthritis
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