Telfer Sugar Jaeger syndrome

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Alternate names

Piebald trait neurologic defects; White forelock and leukoderma with neurological impairment

Definition

Piebald 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.

NIH genetic and rare disease info

Telfer Sugar Jaeger syndrome is a rare disease.


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