Waardenburg syndrome type 1

Orpha code: 894OMIM code: 193500

Definition

A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

Disease data
Classification

Clinical subtype

Synonyms
WS1
WS1
Zespół Waardenburga typu I
Waardenburg syndrome type I
ORPHA code
894
OMIM code
193500
ICD10 code
E70.3
ICD11 code
EC23.2Y

No additional description.

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