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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Camurati-Engelmann disease


Other Names for this Disease

  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • PDD
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Tests & Diagnosis

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How is Camurati-Engelmann disease diagnosed?

Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing.TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available.[1]

Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Health Care Services section to learn how you can locate a genetics professional in your community.
Last updated: 8/1/2013

References
  1. Stephanie E Wallace, William R Wilcox. Camurati-Engelmann Disease. GeneReviews. August 16, 2006; http://www.genetests.org/query?dz=ced. Accessed 4/17/2008.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • CED
  • Diaphyseal dysplasia 1, progressive
  • DPD1
  • Engelmann disease
  • PDD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.