Auro-digital-anal syndrome

Abstract

Two unrelated South Australian families are presented who have a syndrome involving deafness, anal and digital abnormalities, with affected individuals in 2 generations. There is a single family reported in the literature with identical physical findings and a second family has been reported with digital and anal defects only. The syndrome consists of sensorineural deafness, bifid and/or triphalangeal thumbs and either imperforate anus or anterior placed anus. One affected individual has unilateral coronal synostosis which has not previously been recorded in the 2 families referred to in the literature. The inheritance is consistent with autosomal dominant inheritance with varying expression. There was full penetrance but some individuals were asymptomatic and hearing loss was only detected audiologically. A family history of thumb abnormalities should be an indication for future audiological assessment in an individual with an imperforate or malpositioned anus.