Chromosome 11 long-arm deletion syndrome 244

General: Patients with deletion of the long arm of chromosome 11 exhibit a distinctive countenance; female preponderance.

Ocular: Colobomas of the choroid, retina, and iris; retinal reduplication; retinal dysplasia; epicanthus; blepharoptosis; abnormal slanting of the interpalpebral fissures; bilateral uveal colobomas; hypertelorism; avascular retina (bilateral); abnormal pattern of retinal vessels.

Clinical: Keeled forehead; small carp-shaped mouth; low-set ears; highly arched palate; long upper lip with absent philtrum; short neck; widely spaced nipples; flexion contractures of the knees and elbows; hypoplastic nails; broad thumbs with low insertion; deeply pigmented skin on buttocks, lower back, and abdomen and in inguinal regions, axillas, and clavicular areas; congenital heart disease.

Ferry AD, et al. Ocular abnormalities in deletion of the long arm of chromosome 11. Ann Ophthalmol 1981; 13: 1373-l377.

Uto H, et al. A case of 11q- syndrome associated with abnormalities of the retinal vessels. Ophthalmologica 1994; 208:233-622.