Keipert-Danks syndrome is X-linked and maps to Xq22.2-28
Keipert syndrome (Nasodigitoacoustic syndrome, OMIM 255980) is a rare form of syndromic deafness. In addition to sensorineural deafness, Keipert syndrome is characterised by facial abnormalities (large nose, large mouth, prominent upper lip with cupid’s bow configuration, hypertelorism) and digital abnormalities (short and broad distal phalanges). Keipert syndrome was first described in two brothers and subsequently has also been reported in a second pair of male siblings, as well as in two isolated cases, both males. Although Keipert syndrome was initially proposed to have autosomal recessive inheritance, it is notable that all reported cases reported to sate have been male. The two brothers first reported with Keipert syndrome had a clinically unaffected sister, and here we report the diagnosis of Keipert syndrome in the son of this sister, indicating that Keipert syndrome is X-linked. Linkage analysis using microsatellite markers along the X-chromosome indicate that Keipert syndrome maps to Xq22.2-28. Clinical follow up is also provided on the two brothers from the original report of Keipert syndrome.