Brachydactyly

Abstract

Brachydactyly literally means short digits and refers to disproportionately short fingers and toes. The condition is due to congenital absence or underdevelopment of metacarpal (brachymetacarpia) or phalangeal (brachyphalangia) bones. The condition may be isolated in which case it has an autosomal dominant inheritance or associated with other anomalies such as clinodactyly, polydactyly, syndactyly, Kirner deformity, and symphalangism. Brachydactyly was included in the dysostosis group as one of 37 groups of genetic skeletal disorders defined by molecular, biochemical, and/or radiographic criteria affecting the limbs [1]. Brachydactyly may affect one or several fingers on one hand or both hands. Included in this category are short tapered fingers due to small distal phalanges and short broad digits due to cone-shaped epiphyses. Brachydactyly is encountered among patients with various bone dysplasia, mucopolysaccharidosis, and chromosomal aberrations.[2] In fact, there are very few congenital differences of the hand and upper limb, which do not include a small or short digit or thumb. The term is not specific for any syndrome.