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Piebald trait-neurologic defects syndrome
rarePiebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
- Identifiers
- MONDO:0008245 OMIM:172850Orphanet:2885
- Part of
- Hypopigmentation of the skin
- Also known as
- piebald trait neurologic defects · telfer Sugar Jaeger syndrome · telfer-Sugar-Jaeger syndrome · White forelock and leukoderma with neurological impairment
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