Author: Gordon K. Klintworth
Opitz syndrome (Opitz oculogenitolaryngeal syndrome type II, Opitz G syndrome, Opitz G/BBB syndrome, Opitz GBBB syndrome, Opitz BBBG syndrome, telecanthus-hypospadias syndrome, Opitz B/GGG syndrome, hypertelorism-hyopospadias syndrome, telecanthus-hypospadias syndrome, hypertelorism with esophageal abnormality and hypospadias, hypospadias-dysphagia syndrome, Opitz-Frias syndrome, OMIM #145410) is an autosomal dominant syndrome due to microdeletion of part of the long arm of human chromosome 22 (22q11.2). The condition is characterized by hypertelorism, or telecanthus, a laryngotracheoesphageal cleft, cleft palate, bifid uvula. Affected individuals have a hoarse cry and difficulty swallowing. They may die from aspiration. Genitourinary developmental defects are also present. In males hypospadias is the most common, but individuals may also have cryptorchidism and a bifid scrotum. Affected females commonly have a splayed labia majora. Other manifestations include an imperforate anus, mental retardation, and congenital heart disease.