We report a family with hereditary, bilateral, sensorineural deafness spanning four generations.

The patient had sensorineural deafness as well as microscopic haematuria.

One Italian patient had sensorineural deafness and 1 Utah patient had a right split hand defect.

Distal sensory polyneuropathy was the most common feature whereas sensorineural deafness was the least common finding.

In the second family, variable split foot was observed in 3 of 4 gene carriers, and sensorineural deafness was present in 3.