Waardenburg syndrome


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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 balance

Waar·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 syndrome
References in periodicals archive ?
One commonly observed characteristic of Waardenburg syndrome is two differently colored eyes.
The most common of hereditary disorders affecting melanocytes is Waardenburg syndrome, which is an autosomal dominant condition marked by SNHL, skin and hair hypopigmentation (piebaldism), and heterochromia iridis.
In plants, they found a gene that is involved with a genetic disorder called Waardenburg syndrome, which causes a significant fraction of cases of human deafness.
Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK: Waardenburg syndrome.
Scientists supported by the National Institute on Deafness and Other Communication Disorders (NIDCD) are on the forefront of research on the molecular bases of hearing and deafness, continuing to explore the genetics of hearing loss in a variety of disorders, including Waardenburg syndrome, Usher syndrome, nonsyndromic hereditary deafness, otosclerosis, adult-onset hearing loss and presbycusis and the hereditary predisposition to noise- induced hearing loss and otitis media.
Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria.