What is Opitz G/BBB syndrome?
Opitz G/BBB syndrome is a genetic condition that affects several structures along the midline of the body. The most common features of this condition are wide-spaced eyes (hypertelorism); defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (dysphagia); and in males, the urethra opening on the underside of the penis (hypospadias). Mild intellectual disability occurs in fewer than 50 percent of people with Opitz G/BBB syndrome, most likely caused by structural defects in the brain. About half of affected individuals also have cleft lip with or without a cleft palate (an opening in the roof of the mouth). Some have cleft palate alone. Heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as an absence of the tissue connecting the left and right halves of the brain (corpus callosum) occur in less than 50 percent of those affected. Facial abnormalities that may be seen in this disorder include a flat na
