Arthrogryposis, Distal, Type 2e

In 4 generations of a family, Hall et al. (1975) observed a syndrome of small mouth and jaw with limited jaw movement disappearing by adulthood but with horizontal depression above the chin; mild microcephaly; ears missing the antihelix; and severe flexion contractures of the hands and feet, leading to subluxation of the fingers and clubfeet in the most severely affected child. There was no male-to-male transmission.

Hall et al. (1982) reported 13 additional unrelated patients with a disorder similar to that described by Hall et al. (1975). They termed the disorder distal arthrogryposis type IIe. Clinical features in all patients included trismus and an unusual camptodactyly in the newborn period with hyperextension of the metacarpophalangeal joint, distal flexion contractures, and variations in the degree of severity. All patients also had hip and feet involvement, and wrists were commonly flexed. Other variable features included mild developmental delay, micrognathia, horizontal groove on the chin, facial asymmetry, reduced facial expression, and high-arched palate. The inheritance pattern in 3 families was consistent with autosomal dominance. Average paternal age at conception was 36.

This disorder shows phenotypic overlap with trismus-pseudocamptodactyly syndrome (158300).