Genetic disorder consisting of hand and foot
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.
Dhaliwal AS, Myers TL. Digitotalar dysmorphism. Orthop Rev 14:90, 1985.
Sallis JG, Beighton P: Dominantly inherited digitotalar dysmorphism. J Bone Joint
Wood VE, Biondi J: Treatment of the windblown hand. J Hand Surg [Am]