congenital contractural arachnodactyly

congenital contractural arachnodactyly
congenital con·trac·tur·al arachnodactyly -kən-'trak-chə-rəl-, -kän- n a disorder that is similar to or a variant of Marfan syndrome, is inherited as a dominant autosomal trait, and is characterized esp. by arachnodactyly, joint contracture, and scoliosis

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(CCA) an autosomal dominant syndrome caused by mutations in the FBN2 gene (locus: 5q23-q31), which encodes fibrillin 2. It is characterized by long, thin extremities; multiple joint contractures; kyphoscoliosis; and malformed auricles of the ears. Called also distal arthrogryposis type 9 and Beals syndrome.

Medical dictionary. 2011.

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