Aniridia and absent patella

General: Autosomal dominant; rare.

Ocular: Absence of iris; cataracts; glaucoma.

Clinical: Absence of knee cap, hypoplastic or aplastic.

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/.

Murkinson AE, Murkinson NK. A familial syndrome of aniridia and absence of patella. Birth Dejects 129-l31.