Summary
Bowen-Conradi syndrome is a combination of malformations characterised in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. Around 40 cases have been described in the literature, all of which involved the Hutterite population. The prevalence of the syndrome is this group is evaluated at 1 per 355 livebirths. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all reported infants dying within the first few months of life. *Author: Orphanet (May 2004)*.
