van der Hoeve Halbertsona 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. ( CSP )]
UMLS (CSP) C0043008- Congenital Abnormality
- Disease or Syndrome
Relation/PAR: Abnormalities, Multiple
Genetic Condition
syndrome
Genetic Condition
syndrome
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