(Hypertelorism-Hypospadias Syndrome; Opitz Syndrome)
General: X-linked inheritance possible; differentiated from G syndrome by facial features and onset in late childhood (see G Syndrome.) This disorder is compatible with normal intelligence and life span. The abnormal gene may be located in the duplicated region 5p13-p12.
Ocular: Epicanthal folds; strabismus; blepharophimosis; telecanthus; widely spaced eyebrows.
Clinical: High nasal bridge; hypospadias; cryptorchidism; cleft palate and lip; urinary malformations; mental retardation; osteochondritis dissecans; congenital heart defects; upper urinary tract anomalies.
Leichtman LG, et al. Apparent Opitz BBBG syndrome with a partial duplication of 5p. Am J Med Genet 1991; 40:173-176.
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: http://www.ncbi.nlm.nih.gov/omim/.
Stoll C, et al. Male-to-male transmission of the hypertelorism-hypospadias (BBB) syndrome. Am J Med Genet 1985; 20:221-225.