Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral ... Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310).
Lacassie et al. (1977) and Sack (1978) reported a man who was born with limited flexion of all joints of the upper limbs and neck and with absent flexion creases of the fingers. Talipes equinovarus was corrected by ... Lacassie et al. (1977) and Sack (1978) reported a man who was born with limited flexion of all joints of the upper limbs and neck and with absent flexion creases of the fingers. Talipes equinovarus was corrected by bilateral triple arthrodeses and later Achilles tendon extensions. As an adult he was short with scoliosis and 4 symmetric dimples over the posterior ilia. Gaze, especially upward, was generally limited, and the muscles below the knees were atrophic. Intelligence was normal. His 2-year-old daughter showed the same findings. Muscle biopsy was normal. Hall et al. (1983) recognized a specific congenital contracture (arthrogryposis) syndrome in 135 of 350 patients with various kinds of congenital contractures. Always sporadic, this is the disorder that is usually meant when the term arthrogryposis multiplex congenita is used. Amyoplasia is the designation chosen by Hall et al. (1983) because absence of limb muscles, which are replaced by fibrous and fatty tissue, is the finding. At birth, characteristic positioning includes internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. Severe equinovarus deformity of the feet is usually present. The face is typically round with a frontal midline capillary hemangioma and slightly small jaw. Intelligence is normal. About 63% had involvement of 4 limbs (usually symmetrically), 24% mainly of the lower limbs, and 13% mainly of the upper limbs. All cases are sporadic. Identical twins are always discordantly affected. Hall et al. (1983) found among 135 patients 11 who were the discordantly affected member of a pair of identical twins. As 8% of the total, this incidence seems to be a remarkable and probably biologically significant excess.