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Spondyloepiphyseal dysplasia tarda X-linked
Other Names for this Disease
- Spondyloepiphyseal dysplasia tarda
- X linked spondyloepiphyseal dysplasia tarda
- X-linked spondyloepiphyseal dysplasia
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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. 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.
- Tiller GE. Spondyloepiphyseal Dysplasia Tarda. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Spondyloepiphyseal%20Dysplasia%20Tarda. Accessed May 10, 2011.
- X-linked spondyloepiphyseal dysplasia tarda. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda. Accessed May 10, 2011.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Spondyloepiphyseal dysplasia tarda X-linked. Click on the link to go to OMIM and review these resources.