Arthrogryposis multiplex congenita-6 (AMC6) is a severe autosomal recessive disorder of skeletal muscle with onset of symptoms in utero. The pregnancies are usually complicated by polyhydramnios and reduced fetal movements. Affected individuals have congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops. Fetal demise or termination of pregnancy often occurs after ultrasound detection of abnormalities. Those that survive to birth have significant hypotonia with absent spontaneous movements, respiratory insufficiency, arthrogryposis, and multiple pterygia. Skeletal muscle is hypoplastic, immature, and underdeveloped, with nemaline rods, poorly developed sarcomeres, and poor cross-striation. Death in infancy usually occurs (summary by Ahmed et al., 2018, Rocha et al., 2021).
For a discussion of genetic heterogeneity of AMC, see AMC1 (617468). [from
OMIM]