Brachydactyly Type D

Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, and trotters is a condition clinically recognised by a thumb being relatively short and round with an accompanying wide nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is a type of brachydactyly, or shortness of digits, and is associated with the HOXD13 gene.

Physiology

Brachydactyly type D is a skeletal condition allegedly caused by a 'partial fusion or premature closing of the epiphysis with the distal phalanx of the thumb', according to Goodman et alia (1965). J.K. Breithenbecher (1923) found that distal phalanges of stub thumbs were one-half the length of full-length thumbs, while R.M. Stecher (1957) claimed that it be approximately two-thirds. The condition may either be unilateral (affecting one thumb) or bilateral (affecting both).

Genetics

A genetic trait, brachydactyly type D exhibits autosomal dominance and is commonly developed or inherited independently of other hereditary traits. The condition is associated with the HOXD13 gene, which is central in digital formation and growth.

Epidemiology

A 1965 scientific study in Israel found that 3.05% of Palestinians in Israel had one or two stub thumbs, compared with 1.57% among Ashkenazi as well as non-Ashkenazi Jews. However, as the survey's Arab test persons were mainly recruited from a handful of large and closely related clans living in a particular village, said percentage should be 'considered with some reservation', according to Goodman et alia (1965). Stub thumbs are also relatively common in Japan.

Cases of stub thumbs have also been found in Eastern Nepal for Jirel ethnic individuals from their participation in various epidemiologic studies. Some studies included taking radiographs of hands and wrists to examine their skeletal structure. Of the studied sample (which included 2,130 participants; 969 male and 1,161 female), 3.55% were found to have brachydactyly type D.

Terminology

The condition is known under numerous names. The most commonly used name is clubbed thumb, or club thumb. American researcher R.A. Hefner used the terms "short thumb" and "brachymegalodactylism" in 1924, and "short thumb" has continued to be used in a few other studies since then, including the study that defined Rubinstein–Taybi syndrome in 1963. "Stub thumb" is the common term preferred by the online database Online Mendelian Inheritance in Man and was first used in a 1965 study. Stub thumbs have also been called murderer's thumb (allegedly among fortune tellers), bohemian thumb, Tory's thumb, and potter's thumb.

The term "clubbed thumb" should not be confused with nail clubbing, which is a clinical sign associated with a number of diseases.