Acrorenoocular syndrome

General: Autosomal dominant; Duane syndrome with radial defects.

Ocular: Complete coloboma; coloboma of optic nerve; ptosis and Duane anomaly.

Clinical: Renal anomalies; hypoplasia of distal part of thumb with lack of motion at phalangeal joint; renal ectopia without fusion; bladder diverticula; malrotation of both kidneys; absence of kidney; clubhand or absence of thumb.

Halal F, et al. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia; renal ectopia and eye defect. Am J Med Genet

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/.