Diagnostic considerations in arthrogryposis syndromes in South Africa

Congenital rigidity of multiple joints poses a difficult diagnostic and therapeutic problem. There are also semantic difficulties as the non-specific term "arthrogryposis" is often used for any individual with congenital limitation of joint movement. Many distinct syndromes present in this way and as they differ in their course, prognosis and genetic implications, diagnostic precision is crucial. A diagnostic analysis is given of 247 South African patients in whom "arthrogryposis" had been recorded, and the pathogenesis and nosology of congenital contractures are discussed in this paper. Three of these stiff joint conditions were originally described in South African patients, i.e. Liebenberg synostosis syndrome, digitotalar dysmorphism, and the Gordon syndrome of autosomal dominant cleft palate, camptodactyly and club feet.