Piebald trait-neurologic defects syndrome

Orpha code: 2885OMIM code: 172850

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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