Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Opitz G/BBB syndrome


Other Names for this Disease
  • BBB syndrome
  • G syndrome
  • GBBB syndrome
  • Hypertelorism hypospadias syndrome
  • Hypertelorism with esophageal abnormality and hypospadias
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is Opitz G/BBB syndrome diagnosed?

The diagnosis of Opitz G/BBB syndrome is usually based on clinical findings. In order to differentiate the X-linked form from 22q11.2 deletion syndrome (the autosomal dominant form), the pattern of inheritance within the family may be assessed. Molecular genetic testing for mutations in the MID1 gene is available for confirmation. Between 15 and 45% of males with clinically diagnosed Opitz G/BBB syndrome are found to have a mutation in this gene.[1][2]
Last updated: 8/11/2015

References
  1. Germana Meroni. X-Linked Opitz G/BBB Syndrome. GeneReviews. July 28, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1327/. Accessed 8/11/2015.
  2. Germana Meroni. X-linked Opitz G/BBB syndrome. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/x-linked-opitz-gbbb-syndrome/. Accessed 8/11/2015.


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
  • BBB syndrome
  • G syndrome
  • GBBB syndrome
  • Hypertelorism hypospadias syndrome
  • Hypertelorism with esophageal abnormality and hypospadias
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.