A Kirner deformity, also known as dystelephalangy, is characterized by a curvature of the distal phalanx of the 5 digit in both a palmar and radial direction.
The deformity typically presents in late childhood to early adolescence, although a mild deformity may be present at birth. Both sexes are affected, although there is a predominance of cases in women reported, perhaps indicating a gender predilection .
Inheritance has been described as autosomal dominant with variable penetrance, however many cases appear sporadic .
Associations may include:
- Down syndrome
- pes cavus
- absence of the flexor digitorum superficialis tendon in the 5digit
- myositis ossificans
- Turner syndrome
- Silver syndrome
- Cornelia de Lange syndrome
- congenital cardiac abnormalities
Although the presentation is usually with deformity, in some patients swelling and erythema may be present .
Radiographic changes affect the terminal phalanx of the 5 digit, in most cases bilaterally, and are characterized as:
- palmar and radial deviation
- radiolucent nidus (1-2 mm) within the terminal tuft
- shortened diaphysis
- sclerosis of the diaphysis
- metadiaphyseal defect
Treatment and prognosis
As this is purely a cosmetic problem (unless fine motor skills are required) medical treatment is optional. It is unclear whether splints alter the degree of deformity . Osteotomy is an option if treatment is deemed necessary.
History and etymology
It was first described by J Kirner in 1927 .