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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


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

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Spondyloepiphyseal dysplasia tarda X-linked. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondyloepiphyseal dysplasia tarda X-linked. Click on the link to view a sample search on this topic.
  • Medscape Reference has information on spondyloepiphyseal dysplasia in general. You may need to register to view this medical reference, but registration is free.