brachydactyly

Brachydactyly is a medical condition characterized by abnormally short fingers and toes caused by underdeveloped or shortened bones in the digits, such as the phalanges or metacarpals. It can affect a single digit or multiple digits and may occur as an isolated, non-syndromic finding or as part of a genetic syndrome. The condition is used to describe several distinct hereditary forms that share the common feature of digit shortening and are often categorized into several types (commonly labeled A through E) based on which bones are affected.

Most cases are present at birth and inherited in an autosomal dominant manner, though autosomal recessive and sporadic cases occur. Mutations in genes involved in limb development, including HOXD13, PTHLH, GDF5, IHH, and ROR2, have been associated with different brachydactyly forms. Brachydactyly can occur in isolation or in combination with other anomalies in syndromic conditions such as Robinow syndrome, Albright hereditary osteodystrophy, and Langer mesomelic dysplasia.

Diagnosis relies on a clinical examination and radiographs to determine the specific bones shortened and the pattern of involvement. Genetic testing may be used to confirm the type and assess familial risk, particularly in ambiguous cases or for counseling.

Treatment is usually not required for mild cases. When there is functional impairment or cosmetic concern, management may include occupational therapy, monitoring, or surgical correction of selected bones in some individuals. Prognosis for isolated non-syndromic brachydactyly is generally good, with normal overall health expectations apart from the digit shortening.