Waardenburg-Shah syndrome.
Incidence
In 1981 Shah et al. described a syndrome that they considered a variant of WS in spite of an autosomal recessive inheritance pattern. This is a very rare, potentially fatal disorder.
Clinical Characteristics
In 1981 Shah et al. described a syndrome that they considered a variant of WS in spite of an autosomal recessive inheritance pattern. This is a rare, potentially fatal disorder in which affected individuals have depigmentation of the hair, eye, and skin associated with Hirschsprung disease of the long segment type. Several families with parental consanguinity, multiple affected sibs, and normal parents have been reported with this variant, termed \"Waardenburg-Shah syndrome,\" supporting the hypothesis for an autosomal recessive inheritance.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Clinical diagnosis.