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Diseases

Genetic and Rare Diseases Information Center (GARD)

Opitz G/BBB syndrome


Other Names for this Disease
  • Hypospadias-dysphagia, syndrome
  • Opitz-Frias syndrome
  • G syndrome
  • Opitz-G syndrome, type 2
  • Hypertelorism hypospadias syndrome
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Tests & Diagnosis

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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. Meroni G. X-Linked Opitz G/BBB Syndrome. GeneReviews. July 28, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1327/. Accessed 12/10/2015.
  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 12/10/2015.


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
  • Hypospadias-dysphagia, syndrome
  • Opitz-Frias syndrome
  • G syndrome
  • Opitz-G syndrome, type 2
  • Hypertelorism hypospadias syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.