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Waardenburgov syndróm

Č. záznamu	d014849
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	Waardenburgov syndróm
Iný termín	Angličtina (Pseudonym) Klein-Waardenburg Syndrome Angličtina (Pseudonym) Waardenburg's Syndrome Slovenčina (Pseudonym) Kleinov-Waardenburgov syndróm
Pozri tiež	(Skutočné meno) piebaldizmus (Novšie záhlavie) piebaldizmus
MDT	C16.131.077.938
Poznámka	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.

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