[Advances in the molecular genetics of brachydactyly]

Brachydactyly (BD) is a general term that refers to shortening of the hands/feet due to small or missing metacarpals/metatarsalsand/or phalanges, and forms part of the group of limb malformations characterized by bone dysostosis. It may occur either as an isolated trait or as part of a syndrome. BD may also be accompanied by other hand mal-formations, such as syndactyly, polydactyly, reduction defects, and symphalangism. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. For the majority of isolated BD and some syndromic forms of BD, the causative gene defect has been identified. These studies have shown that the bone morphogenetic protein (BMP) pathway plays a pivotal role in the normal development of digits and joints and that the majority of brachydactyly disease genes are directly or indirectly linked to this pathway. This review summarizes the progress in the molecular genetics of BD, which will contribute to the BD pathogenic mechanism and implementation of genetic clinic.