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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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.
Last updated: 8/11/2015
- Meroni G. X-Linked Opitz G/BBB Syndrome. GeneReviews. July 28, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1327/. Accessed 12/10/2015.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.