Miller syndrome (wilms aniridia syndrome; wagr syndrome; wilms tumor-aniridia- genitourinary abnormalities-mental retardation syndrome)

General: Etiology unknown; manifests an association of aniridia, which is inherited as a dominant autosomal trait, and Wilms tumor; this is one of the best studied continuous gene syndromes as defined by Schmickel.

Ocular: Glaucoma; bilateral aniridia (aniridia often not complete, with remnants of iris root present as rudimentary forms); cataract.

Clinical: Wilms tumor; mental retardation with microcephaly; genital malformations with cryptorchidism and hypospadias; hemihypertrophy; kidney anomalies (horseshoe kidney).

Fraumeni JF, Glass AG. Wilms' tumor and congenital aniridia. JAMA 1968; 206:825.

Mackintosh TF, et al. Aniridia and Wilms' tumor (nephroblastoma). Br J Ophthalmol 1968; 52:846.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th 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/.

Miller RW, et al. Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 1964; 270:922.

Schmickel RD. Chromosomal deletions and enzyme deficiencies. J Pediatr 1986; 108:244-246.