Santos Syndrome

Clinical Features

Santos et al. (2008) reported 6 members of a Brazilian family with short stature due to fibular agenesis or hypoplasia, clubfeet with oligodactyly, acromial dimples, motion limitations of the forearms and/or hands, and severe nail hypoplasia or anonychia that was sometimes associated with brachydactyly and occasionally with preaxial polydactyly.

Inheritance

Santos et al. (2008) suggested autosomal dominant inheritance with incomplete penetrance for this disorder based on the structure of the pedigree, but noted that autosomal recessive inheritance could not be ruled out because of the high rate of consanguinity (about 20-30%) in the region to which the family belongs.