Brachydactyly

Abstract

The term brachydactyly is derived from the ancient Greek (brachy - short; dactylos - finger), which characterizes the shortening of the limbs due to shorter phalanges, metacarpal or metatarsal bones, or both. It can . be associated with other malformations of the hand, such as syndactyly, Polydactyly, etc. For most forms, the defec- < tive gene has been identified and inheritance is autosomal dominant with variable expansiveness and penetrance. Diagnosis is clinical, anthropometric and via x-ray imaging., Prenatal diagnosis is not indicated for isolated forms. Molecular testing of chorionic villus samples at 11 weeks and : by amniocentesis after 14 weeks of gestation can provide \ a prenatal diagnosis if the mutated gene in the family is \ known. i There is no specific treatment. Plastic surgery is indicated when the function of the hand is affected or for cosmetic, reasons but is usually not necessary. Physical therapy and j exercise therapy can improve hand function [4].