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Diseases

Waardenburg Syndrome

waardenburg syndrome

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Entity Type
Diseases
Relation Groups
3
Relation Preview
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Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Waardenburg Syndrome
Standard Disease Name
waardenburg syndrome
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D014849
OMIM ID
No data
UMLS ID
C3266898
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.|MSH2017_2016_08_12: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.|CSP2006:rare, autosomal dominant disease with variable penetrance and several known clinical subtypes; 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); may be closely related to piebaldism; Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.