Spondyloepiphyseal dysplasia tarda X-linked
Other Names for this Disease
- DES embryofetopathy
- DES syndrome
- Diethylstilbestrol embryofetopathy
- Diethylstilbestrol syndrome
- Distilbene embryofetopathy
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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.
Last updated: 5/10/2011
- Tiller GE, Hannig VL. X-linked spondyloepiphyseal dysplasia tarda. GeneReviews. February 2011; http://www.ncbi.nlm.nih.gov/books/NBK1145/. Accessed 5/10/2011.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.