Opitz G/BBB syndrome
Other Names for this Disease
- BBB syndrome
- G syndrome
- GBBB syndrome
- Hypertelorism hypospadias syndrome
- Hypertelorism with esophageal abnormality and hypospadias
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Tests & Diagnosis
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.
Last updated: 8/11/2015
- Germana Meroni. X-Linked Opitz G/BBB Syndrome. GeneReviews. July 28, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1327/. Accessed 9/23/2015.
- 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.
- 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.