Velocardiofacial syndrome

General: Autosomal dominant; an 535g64f omaly of neural crest derivatives; most common syndrome of clefting; possible association with microdeletion at 22q11.

Ocular: Retinal vascular tortuosity; posterior embryotoxon; narrow palpebral fissures; suborbital discoloration; small optic nerves; iris nodules; cataracts; prominent corneal nerves; strabismus; hyperopia; myopia; astigmatism; anisometropic astigmatism.

Clinical: Cleft palate; learning disability; ventricular septal defect with or without the tetralogy of Fallot; right-sided aortic arch; prominent nose; retrognathia; helical thickening; small auricles; auricular protrusion; microcephaly; small stature; inguinal or umbilical hernia; scoliosis; slender hands and digits; small vermis; small posterior fossa; developmental delay; heart malformations; late-onset psychosis.

Goldberg R, et al. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 1993; 45:313-319.

Mansour AM, et al. Ocular findings in velo-cardio-facial syndrome. J Pediatr Ophthalmol Strabismus 1987; 24: 263-266.

Mitnick RJ, et al. Brain anomalies in velo-cardio-facial syndrome. Am J Med Genet 1994; 54:100-l06.

Williams MA, et al. Male-to-male transmission of velo-cardio-facial syndrome: a case report and review of 60 cases. Am J Med Genet 1983; 15:669-671.