Summary
Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness.
Detailed clinical description
Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness. The syndrome has been originally described as a arthrogryposis-like hand anomaly with sensorineural deafness. Both features of the syndrome can vary widely in severity. Some patients may have only the hand anomaly. Male-to-male transmission was observed. The disorder is thought to be very rare.
Molecular genetics
No gene has been associated to DA6 yet. In the reported cases male-to-male transmission was observed.
Genetic testing strategy
No gene has been so far associated to distal arthrogryposis type 6. However, since arthrogryposes are clinically and genetically heterogeneous, in case of clinical suspicion of any arthrogryposis subtype, panel testing (EXOME PANEL) is recommended. To look for mutations in as yet unknown genes, EXOME TRIO is recommended.
Panel testing recommended at Breda Genetics for this condition:
