Waardenburg Syndrome

Waardenburgs syndrom

Engelsk definition

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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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