Ectrodactyly

Ectrodactyly with or without more severe limb reduction defects may be seen in a variety of different syndromes (3,8,12,23,24,40-42,46,54,63,75).

Furthermore, although the peculiar craniofacial lesion observed in mutant mice is never observed in patients of SHFM1, an etiological association has been established between SHFM1 and syndromic ectrodactylies in which cleft lip and/or palate, hearing loss, and genito-urinary anomalies are present.

EEC is the best known of the syndromic ectrodactylies, but it is extremely rare, with only 200 reported cases.