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Waardenburg syndrome
Waar·den·burg syndrome W0001200 (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.]Waardenburg syndrome
Waar·den·burg syn·drome (văr-den-berg), [MIM*193500, MIM*193510] disorder characterized by lateral displacement of inner canthi (dystopia canthorum), broad nasal root, heterochromia iridis, sensory hearing impairment, white forelock, and synophrys; autosomal dominant inheritance with type 1 distinguished from type 2 by the presence of dystopia canthorum. Types 1 and 3 are caused by mutation in the PAX3 gene on chromosome 2q, whereas some cases of type 2 are caused by mutation in the microphthalmia transcription factor gene (MITF) on 3p. Type 4 is caused by mutations of EDNB on 13q, EDN3 on 20q, or SOX10 on 22q.
Waar·den·burg syn·drome (văr-den-berg), [MIM*193500, MIM*193510] disorder characterized by lateral displacement of inner canthi (dystopia canthorum), broad nasal root, heterochromia iridis, sensory hearing impairment, white forelock, and synophrys; autosomal dominant inheritance with type 1 distinguished from type 2 by the presence of dystopia canthorum. Types 1 and 3 are caused by mutation in the PAX3 gene on chromosome 2q, whereas some cases of type 2 are caused by mutation in the microphthalmia transcription factor gene (MITF) on 3p. Type 4 is caused by mutations of EDNB on 13q, EDN3 on 20q, or SOX10 on 22q.Waardenburg 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.Waardenburg syndrome Klein-Waardenberg syndrome Audiology An AD condition characterized by sensorineural deafness and partial albinism, a wide nasal bridge due to the lateral displacement of inner canthi, pigment defects–eg, white forelock, heterochromic iris–distinctive pale blue color of one or both eyes, leukoderma and defects in balanceWaar·den·burg syn·drome (vahr'den-burg sin'drōm) Congenital craniofacial dysmorphism characterized by white forelock, lateral displacement of medial canthi, iris bicolored or blue, prominence of the root of the nose, hyperplasia of medial portion of eyebrows, and congenital deafness. Mende, Irmgard, German physician. Mende syndrome - congenital syndrome combining partial albinism, deafness, mongoloid facies, chronic blepharitis, cleft lip, and occasionally mental retardation. Synonym(s): type IV acrocepalosyndactyly; Waardenburg syndrome
Waardenburg, Petrus Johannes, Dutch ophthalmologist, 1886-1979. Waardenburg syndrome - Synonym(s): Mende syndromeAcronymsSeeweb site |