G/BBB Syndrome

G/BBB Syndrome which is also known as Opitz G/BBB syndrome, Opitz syndrome, G syndrome, and BBB syndrome is generally characterized by remarkably wide-spaced eyes, clefts and holes in the trachea, larynx, esophagus, and palate, and urinary openings (but not at the tip of penis) among males. Also, 50% of individuals who are diagnosed with this rare genetic disorder present mild intellectual disability and developmental delay. Dr. Opitz was the first to medically describe the syndrome and “G” and “BBB” stand for the last names of the families who were first diagnosed with this condition. This is caused by one or two genetic mutations concerning the X chromosome or the 22nd autosomal chromosome.