Piebald trait-neurologic defects syndrome

Orpha code: 2885OMIM code: 172850

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.

Disease data
Classification

Malformation syndrome

Synonyms
Telfer-Sugar-Jaeger syndrome
Zespół Telfera, Sugar i Jaegera
ORPHA code
2885
OMIM code
172850
ICD10 code
-
ICD11 code
-

No additional description.

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