Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by
malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and
hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked
Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS) (see
these terms).
Due to the complex nature of the syndrome multidisciplinary team of maxillofacial surgeons,
ophthalmologists, pediatricians, urologists, cardiologists, pulmonologist, speech therapist, geneticist
will be involved in the patient,s treatment. Treatment is directed first of all, correction and
restoration surgery.
So J., Suckow V., Kijas Z., Kalscheuer V., Moser B.,Winter J., Baars M., Firth H., Lunt P., Hamel B.,Meinecke P., Moraine C., and 14 others. Mild phenotypes in a series of patients with Opitz G/BBB syndrome with MID 1 mutations. Am.J.Med.Geneet. 132 A: 1-7, 2005 .
De Silva D., Osborne A., Simpson S. A., Dean J.C.S., Seaton A. Opitz oculogenito- laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult. Thorax 53: 149-150, 1998.
Jacobson Z., Glickstein J., Hensle T., Marion R.W. Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. Am, J, Med.Genet.78: 294-299, 1998.
Robin N.H., Opitz J.M., Muenke M. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am.J.Med.Genet 62: 305-317, 1996.
Robin N.H., Feldman G.J., Aronson A.L., Mitchell H.F., Weksberg R., Leonard C.O., Burton B.K., Josephson K.D., Laxova R., Aleck K.A., Allanson J.E., Guion-
Almeida M.L., Martin R.A., Leichtman L.G., Price R.A., Opitz J.M., Muenke M. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.Nature Genet.11: 459-461, 1995.