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Waardenburg syndrome (medical condition): A rare genetic disorder with a large variation in...more »
Waardenburg syndrome: 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.
These medical condition or symptom topics may be relevant to medical information for Waardenburg syndrome:
Waardenburg syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Waardenburg syndrome, or a subtype of Waardenburg syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Waardenburg syndrome: Waardenburg syndrome is listed as a type of (or associated with) the following medical conditions in our database:
The disease was named for Petrus Johannes Waardenburg, a Dutch ophthalmologist (1886-1979) who was the first to notice that people with...(Source: Genes and Disease by the National Center for Biotechnology)
Source - NIH
Source - CRISP
Source - CRISP
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