Diseases

Waardenburg Syndrome

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

MeSH Record

Classification

Broader headings

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MeSH Record

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MeSH Record

Synonyms

24 entry terms
  • Waardenburg's Syndrome
  • Syndrome, Waardenburg
  • Syndrome, Waardenburg's
  • Waardenburgs Syndrome
  • Klein Syndrome
  • Klein's Syndrome
  • Klein-Waardenburg Syndrome
  • Waardenburg Syndrome Type 1
  • Waardenburg Syndrome Type 3
  • Waardenburg Syndrome with Dystopia Canthorum
  • Waardenburg Syndrome with Upper Limb Anomalies
  • Waardenburg Syndrome, Type 1
  • Waardenburg Syndrome, Type 3
  • Waardenburg Syndrome, Type III
  • Waardenburg's Syndrome Type 1
  • Waardenburg-Klein Syndrome
  • White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations
  • Klein Waardenburg Syndrome
  • Kleins Syndrome
  • Syndrome, Klein
  • Syndrome, Klein's
  • Syndrome, Klein-Waardenburg
  • Syndrome, Waardenburg-Klein
  • Waardenburg Klein Syndrome

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012

MeSH Hierarchy

Tree Number

  1. C16w.131w.077w.938w

AMA Style

References

  1. National Library of Medicine. Waardenburg Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D014849. http://id.nlm.nih.gov/mesh/2026/D014849
  2. Waardenburg Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Waardenburg_syndrome
  3. Waardenburg Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1151801