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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondyloepiphyseal dysplasia tarda X-linked


Other Names for this Disease
  • SED
  • X linked spondyloepiphyseal dysplasia tarda
  • X-linked spondyloepiphyseal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have a brother with X-linked spondyloepiphyseal dysplasia. I would like general information about this condition, including hip replacement surgery. I am also looking for doctors that might be able to help with the hip pain. 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

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 is the prognosis of X-linked spondyloepiphyseal dysplasia tarda?

Affected males usually show signs and symptoms of this condition between 5 and 10 years of age. Progressive joint and back pain usually increases with age. The hips, knees, and shoulder joints are commonly involved to variable degrees. The joints in the hands and feet are usually not affected. Given the skeletal and joint abnormalities seen in this condition, affected individuals are often advised to avoid activities that place undue stress on the spine and weight-bearing joints.[3] Affected males appear to have a normal lifespan and intelligence. Normal motor and cognitive milestones are usually achieved.[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

How can I find a doctor who sees patients with X-linked spondyloepiphyseal dysplasia tarda?

On their Web site, the Little People of America advocacy organization lists U.S. and international skeletal dysplasia clinics. You can click on the link below to view this list of institutions.
http://www.lpaonline.org/mc/page.do?sitePageId=99427&orgId=lpa
Last updated: 5/10/2011

References
Other Names for this Disease
  • SED
  • X linked spondyloepiphyseal dysplasia tarda
  • X-linked spondyloepiphyseal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.