Brachydactyly essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group, it most commonly involves the middle phalanx 2. Single or multiple bones of individual digits, single bones of multiple digits, or multiple bones of different digits may be involved.
Pathology
Bell classification of brachydactyly
Different types of brachydactyly are classified according to their clinical and radiographic features of phalangeal or metacarpal involvement. The Bell classification was initially proposed in 1951 and further elaborated by Temtamy 5 et al. in 1978, and at the time of writing (July 2016) is the most widely accepted classification. This classification delineates five major types (A-E):
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type A: brachymesophalangy
type A1: Farabee type
type A2: Mohr-Wriedt type
type A3: brachydactyly with clinodactyly
type A4: Temtamy type
type A5: Osebold-Remondini syndrome
type A6
type B
type C: Haws type
type D
type E: brachymetacarpia and brachymetatarsia
types B and E combined: Ballard syndrome or Pitt-Williams type
Associations
Brachydactyly can be either occur in isolation or be associated with syndromic as well as non-syndromic conditions:
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syndromic
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non-syndromic
Differential diagnosis
The differential for other causes of short digits include:
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