Waardenburg syndrome

(redirected from Waardenburg-Shah syndrome)
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Related to Waardenburg-Shah syndrome: DiGeorge syndrome, Waardenburg syndrome type 4

Waar·den·burg syndrome

 (wôr′dn-bûrg′, vär′-)
n.
A hereditary syndrome characterized by varying degrees of deafness and facial bone defects and by variation in pigmentation of the skin, hair, or eyes.

[After Petrus Johannes Waardenburg (1886-1979), Dutch ophthalmologist.]
References in periodicals archive ?
Waardenburg-Shah syndrome (WS4; MIM277580) is one of the four types of Waardenburg Syndrome that is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss along with dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects (Pingault et al.
Sixteen patients presented with the following associated anomalies: Down syndrome (SSA; n = 5; of whom 2 had severe conductive hearing loss); Waardenburg-Shah syndrome with severe sensorineural hearing loss (TCA; n = 1); renal agenesis (SSA; n = 1); parathyroid adenoma (SSA; n = 1); parathyroid nodules (TCA; n = 1); desmoid tumor (SSA; n = 1); congenital central hypoventilation syndrome (CCHS; Ondine's curse; SSA; n = 1); slight mental retardation (SSA; n = 1); Meckel diverticulum (SSA; n = 1); and sensorineural hearing loss (n = 3; 1 SSA and 2 LSA).