Digitotalar Dysmorphism

Genetic disorder consisting of hand and foot deformities.

Hereditary Ulnar Drift; Deviation de la main en Coup de Vent; Windblown Hand Deformity.

Unknown, but described only in a few kindreds. Autosomal dominant with varying clinical expression.

The deformities of the hand may, in part, be a result of the abnormal flexor and extensor mechanisms and the absence of the lateral portion of the extensor tendons expansions. This abnormality could explain the soft tissue deficiency over the middle phalanges and the flexion deformity of the terminal phalanges. The intrinsic muscles may either be shortened or tight, atrophic, or even absent. The extensor tendons are often subluxed into the ulnar valleys between the metacarpal heads. In some individuals, the joint capsules may be involved. When present, the vertical talus is responsible for the “rocker bottom” aspect of the foot.

For some authors, this is a forme fruste of arthrogryposis multiplex congenita. However, the affection limited to hands and feet and its pattern of inheritance allow for differentiation from arthrogryposis multiplex congenita. Deformities of the hands and feet are present at birth and may progress over time. Constant features are flexion contractures of the metacarpophalangeal joints, ulnar deviation, and narrowing of the fingers. Adduction contraction of the thumb with soft tissue webbing to the palm limits the range of motion and is the most limiting disability of this disorder. In some cases, the other digits are flexed in all joints. Metacarpal synostosis is not uncommon. The palms are described as having only a single palmar crease and a very soft and shiny skin. The muscles of the shoulder girdle and the entire upper extremity may be underdeveloped with a limited range of motion. Although some patients have normal feet, bilateral vertical talus with “rocker bottom” feet is a frequent finding and could result in minor gait anomalies (“waddling”).

Careful positioning and padding of the hands are the only specific anesthetic considerations for this syndrome.

Many other syndromes show the same or similar deformities of the hands and feet. However, digitotalar dysmorphism, in its original description, is limited to the features above and does not include any facial stigmata. Freeman-Sheldon syndrome is one of the most important of these syndromes.

Freeman-Sheldon Syndrome (FSS): Genetic disorder characterized by a flat face with a small, pinched mouth mimicking whistling, clubfeet, and contracted muscles of the joints of fingers and hands. The hand deformities may resemble those of digitotalar dysmorphism.