G

General: Neuromuscular defect; autosomal dominant; prevalent in males; males more severely affected (see BBB Syndrome).

Ocular: Retinitis pigmentosa; hypertelorism; narrow palpebral fissures; epicanthal folds; telecanthus.

Clinical: Defect of esophagus; hoarseness; hypospadias; cryptorchidism; imperforate anus; defect of lingual frenulum; deafness; mild mental retardation; dysphagia; anosmia; swallowing difficulties; nasal bridge broad and flat; stridor; aspiration; prominent forehead; cleft lip and palate; laryngotracheal esophageal clefts.

Allanson JE. G syndrome: an unusual family. Am J Med Genet 1988; 31:637-642.

Arya S, et al. The G syndrome: additional observations. Am J Med Genet 1980; 5:321-324.

Bershof JF, et al. G syndrome: a review of the literature and a case report. J Craniomaxillofac Surg 1992; 20:24-27.

Cote GB, et al. The G syndrome of dysphagia, ocular hypertelorism and hypospadias. Clin Genet 1981; 19:473-478.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.