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.

Also Known As:

Klein Syndrome; Klein's 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; Syndrome, Waardenburg's; Syndrome, Waardenburg-Klein; Waardenburg Klein Syndrome; Waardenburgs Syndrome; Klein-Waardenburg Syndrome; Waardenburg's Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Waardenburg Syndrome: 115

Waardenburg syndrome type 2A

Disease Context: Research Results