brahüdaktiline

Brahüdaktiline, commonly referred to in English as brachydactyly, is a congenital condition characterized by shortening of the fingers and toes due to abnormal development or formation of the bones of the hands and feet. The primary bones affected are the phalanges (finger and toe bones) and, in some cases, the metacarpals or metatarsals. The presentation can range from mild, with a single shortened phalanx, to striking shortening of multiple bones, which may influence hand or foot function as well as appearance. Most cases are non-syndromic, occurring in isolation, but brachydactyly can also be part of broader genetic syndromes.

Classification of brachydactyly typically relies on the pattern of bone involvement and is often described in types A through E. Each type denotes which bones are shortened: Type A generally involves the middle phalanges; Type B features hypoplasia or absence of distal phalanges and nail abnormalities; Type C shows milder or different patterns of phalangeal shortening; Type D is usually isolated to the distal phalanx of the thumb; Type E involves shortening of proximal phalanges and/or metacarpals. Variants and subtypes exist, and precise classification is usually confirmed by radiographic examination.

Genetically, brachydactyly is caused by mutations affecting limb development and endochondral ossification. Numerous genes have been implicated, including HOXD13, GDF5, IHH, GLI3, and SHOX, among others. Inheritance is most commonly autosomal dominant, though recessive forms occur and brachydactyly can be part of other syndromes with additional features.

Management focuses on functional or cosmetic concerns. Many individuals require no treatment. When indicated, surgical procedures can lengthen or reposition affected bones or correct nail anomalies, often coordinated with pediatric or orthopedic specialists. Occupational therapy may assist with hand function. Prognosis is generally favorable for non-syndromic cases; syndromic forms depend on the associated conditions.