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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Opitz G/BBB syndrome


Other Names for this Disease
  • BBB syndrome
  • G syndrome
  • GBBB syndrome
  • Hypertelorism hypospadias syndrome
  • Hypertelorism with esophageal abnormality and hypospadias
More Names
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Treatment


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How might Opitz G/BBB syndrome be treated?

Because of the wide range of signs and symptoms that may be present in affected individuals, management of Opitz G/BBB syndrome typically incorporates a multidisciplinary team consisting of various specialists. Treatment for the condition may include surgery for significant abnormalities involving the larynx, trachea and/or esophagus; surgical intervention as needed for hypospadias, cleft lip and/or cleft palate, and imperforate anus; therapy for speech problems; surgical repair as needed for heart defects; neuropsychological support; and possibly special education for many males with the  X-linked form of the condition.[1]
Last updated: 6/17/2011

References
  1. Germana Meroni. X-Linked Opitz G/BBB Syndrome. GeneReviews. June 20, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1327/. Accessed 6/17/2011.


Management Guidelines

  • 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.