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Genetic and Rare Diseases Information Center (GARD)

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Spondyloepiphyseal dysplasia tarda X-linked


Other Names for this Disease
  • SED
  • Spondyloepiphyseal dysplasia tarda
  • X linked spondyloepiphyseal dysplasia tarda
  • X-linked spondyloepiphyseal dysplasia
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Overview



What is X-linked spondyloepiphyseal dysplasia tarda?

What causes X-linked spondyloepiphyseal dysplasia tarda?

How is X-linked spondyloepiphyseal dysplasia tarda inherited?

How might X-linked spondyloepiphyseal dysplasia tarda be treated?


What is X-linked spondyloepiphyseal dysplasia tarda?

X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that  affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches.[1][2] Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.[2]
Last updated: 5/10/2011

What causes X-linked spondyloepiphyseal dysplasia tarda?

This condition is caused by mutations in the TRAPPC2 gene (sometimes called the SEDL gene), which is located on the X chromosome. The TRAPPC2 gene provides instructions for producing a protein called sedlin. The function of this protein is unclear. Researchers believe that sedlin is part of a larger protein complex, which helps transport proteins between various cell organelles. Mutations in TRAPPC2 affect how the sedlin protein is made, which ultimately affects bone growth.[2]
Last updated: 5/10/2011

How is X-linked spondyloepiphyseal dysplasia tarda inherited?

This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. However, mild symptoms of osteoarthritis have been reported in female carriers of X-linked spondyloepiphyseal dysplasia tarda.[2]
Last updated: 5/10/2011

How might X-linked spondyloepiphyseal dysplasia tarda be treated?

Many affected individuals require joint replacement surgery (hip, knee, shoulder) or spine surgery (correction of scoliosis or kyphosis). Hip replacement is often required as early as 30 years of age. Chronic pain management is standard and often required before or after surgery. Affected individuals should be regularly followed by a professional familiar with this condition for the development of joint pain and scoliosis.[3]
Last updated: 5/10/2011

References
  1. Tiller GE. Spondyloepiphyseal Dysplasia Tarda. National Organization for Rare Disorders (NORD). December 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Spondyloepiphyseal%20Dysplasia%20Tarda. Accessed 5/10/2011.
  2. X-linked spondyloepiphyseal dysplasia tarda. Genetics Home Reference (GHR). June 2008; http://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda. Accessed 5/10/2011.
  3. Tiller GE, Hannig VL. X-linked spondyloepiphyseal dysplasia tarda. GeneReviews. February 2011; http://www.ncbi.nlm.nih.gov/books/NBK1145/. Accessed 5/10/2011.