Acrorenoocular Syndrome

Acrorenoocular Syndrome                                    22

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 1984; 17:753-762.

McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.