Arthrogryposis, Distal, Type 6

Description

Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness (summary by Bamshad et al., 2009).

For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).

Clinical Features

Stewart and Bergstrom (1971) described a 'new' syndrome of arthrogryposis-like hand anomaly and sensorineural deafness. Both features of the syndrome varied widely in severity. Two members of the most recent generation had only the hand anomaly. Male-to-male transmission was observed.

In a revised and extended classification scheme of the distal arthrogryposes, Bamshad et al. (1996) referred to this disorder as distal arthrogryposis type 6 (DA6).