distal arthrogryposis

a clinically and genetically heterogeneous, autosomal dominant condition characterized by contractures of the of the hands and feet, causing severe deformity, with variable involvement of more proximal joints. It may occur alone or in combination with other anomalies, which form the basis for its classification into a number of types. Type 1, caused by mutation in the TPM2 gene (locus: 9p13.2-p13.1), which encodes the β isoform of tropomyosin, is the condition without other anomalies. Type 2A is Freeman-Sheldon syndrome; type 2B is Sheldon-Hall syndrome; type 3 is Gordon syndrome (def. 2); type 7 is trismus-pseudocamptodactyly syndrome; type 8 is autosomal dominant multiple pterygium syndrome; type 9 is congenital contractural arachnodactyly.