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 ?
Waardenburg syndrome type II (WS 2) is a heterogenous group without dystopia canthorum.
One sided complete heterochrochromia with normal nose and absence of canthal dystopia in this case fulfilled the diagnostic criteria to label her as a case of waardenburg syndrome type II and its occurrence was sporadic.
Waardenburg syndrome (OMIM; 193500) is a rare disorder (1 in 40000 live births) characterized by sensorineural deafness along with defects of neural crest-derived tissues and pigmentary abnormalities (1).
Individuals with Waardenburg syndrome may have some or all of the traits of the syndrome.
There are at least four types of Waardenburg syndrome.
As a genetic disorder, Waardenburg syndrome is passed down from parent to child much like hair color, blood type, or other physical traits.
If someone in your family has WS, you and your relatives may be able to contribute to the understanding of Waardenburg syndrome.
NIDCD-supported scientists have been able to map or locate the abnormal genes on their chromosomes for three of these hereditary syndromic forms of hearing loss: Waardenburg syndrome (WS) type 1 and Usher syndrome types 1 and 2.
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium.
Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS type II.
Clinical and Molecular Studies of Waardenburg Syndrome Type II [thesis].