Research Notes on Opitz G/BBB Syndrome
A genetic condition, Opitz G/BBB syndrome affects several structures along the midline of the body.1 Common features include wide-spaced eyes (hypertelorism); defects of the larynx, trachea, and/or esophagus which cause breathing problems and difficulty swallowing (dysphagia).1 In males, the urethra opening presents on the underside of the penis (hypospadias).1
Fast Facts:
- The syndrome was originally categorized as two distinct disorders namely G syndrome and BBB syndrome.2
- Prenatal diagnosis can be accomplished by ultrasonography.2
- The prognosis depends on the degree of involvement, which can vary greatly among individuals with the syndrome.2
Top Resources on Opitz G/BBB Syndrome
- National Library of Medicine: Opitz G/BBB Syndrome (Nov., 2007)
- National Organization for Rare Disorders: Opitz G/BBB Syndrome
- Telethon Institute of Genetics and Medicine (via PubMed Central): X-Linked Opitz G/BBB Syndrome (June 20, 2007)
- Annals of Plastic Surgery (via INIST-CNRS): Multidisciplinary Management of Opitz G BBB Syndrome (2005)
- Emory University: Ask the Geneticist— Opitz G/BBB Syndrome
- Orphanet: Opitz BBB/G Syndrome (April 15, 2007)
- Yahoo Groups: Opitz G/BBB Syndrome Support Group
- Wikipedia: Midline 1 (Opitz/BBB Syndrome)
Research Notes References
- ↑ 1.0 1.1 1.2 National Library of Medicine: Opitz G/BBB Syndrome
- ↑ 2.0 2.1 2.2 Orphanet: Opitz BBB/G Syndrome
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About this WisdomCard
- Contributor: Kathleen J
- Reviewer: Chris Miller
- Supervised by: The OrganizedWisdom Physician Review Team
- Last update: Oct. 2, 2008
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