Ivic syndrome (radial ray defects, hearing impairment, internal ophthalmoplegia, thrombocytopenia)

General: Autosomal dominant; Institute Venezolano de Investigacionas Cientificas (IVIC); observed in 1800s from Canary Islands in Venezuela; has been observed in descendants of a family that migrated to Venezuela from the Canary Islands.

Ocular: Strabismus; internal ophthalmoplegia.

Clinical: Malformed upper limb; short distal phalanx; hearing loss; thrombocytopenia; leukocytosis; imperforate anus; radial ray defect.

Areas S., et al. The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, internal ophthalmoplegia, and thrombocytopenia. Am J Med Genet 1980; 6:25-29.

Czeizel A, et al. IVIC syndrome: report of a third family [Letter]. Am J Med Genet 1989; 33:282-283.

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/.