National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Opitz G/BBB syndrome

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We have been told that my son has Opitz G syndrome. The hospital did not do any tests, they just looked in a book. How can we be sure that he has this condition? Is there a cure? Can it be treated?

The following information may help to address your question:


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: 11/14/2016

How can we be sure that this is the right diagnosis?

Genetic testing may help confirm the diagnosis. MID1 is the only gene in which mutations are currently known to cause X-linked Opitz G/BBB syndrome. Between 15 and 45% of males with clinically diagnosed Opitz G/BBB syndrome are found to have a mutation in this gene.[1][2]

We strongly recommend that you work with a genetics professional who can help you better understand the role of genetic testing in the diagnosis of Opitz G/BBB syndrome.
Last updated: 8/11/2015

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 11/30/2017

Is there a cure for Opitz G/BBB syndrome?

No. There is no cure for Opitz G/BBB syndrome.
Last updated: 8/11/2015

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 special education services.[1]
Last updated: 11/14/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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