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 ?
All these features favor the diagnosis of classical type I Waardenburg syndrome according to diagnostic criteria (Table 1).
Table 1 Diagnostic criteria of Waardenburg syndrome [5].
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.
Individuals with Waardenburg syndrome may have some or all of the traits of the syndrome.
There are at least four types of Waardenburg syndrome. The most common types of WS identified by scientists are Type 1 and Type 2.
What are the characteristics of Waardenburg syndrome?
(1.) Black FO, Pesznecker SC, Allen K, Gianna C: A vestibular phenotype for Waardenburg Syndrome? Otol Neurotol 2001;22:188-94.
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.
Genetic heterogeneity in Waardenburg syndrome. Birth Defects Orig Artic Ser 1971;7:87-l0l.
When neural crest biology fails, the result is various birth defects and illnesses: cleft lip/palate, Hirschsprung and Waardenburg syndromes, melanoma and neuroblastoma.
Mutations in MITF not only play a role in the development of skin cancer, but also cause severe genetic diseases like the Tietz and Waardenburg syndromes that lead to deafness, skin and hair pigmentation defects, abnormal eye anatomy and altered vision.