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.

Look at other dictionaries:

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  • Arachnodactyly — Long spider like fingers and toes, a frequent finding in Marfan syndrome, a heritable disorder of connective tissue. Arachnodactyly is derived from the Greek arachne (spider) and daktylos (finger). The Greek word was derived from the name Arachne …   Medical dictionary

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  • Marfan syndrome — Marfan redirects here. For the person after whom the syndrome is named, see Antoine Marfan. Marfan syndrome Classification and external resources Micrograph demonstrating myxomatous degeneration of the aorti …   Wikipedia

  • CCA — Abbreviation for chimpanzee coryza agent. * * * canonical correlation; cephalin cholesterol antigen; chick cell agglutination; chimpanzee coryza agent; choriocarcinoma; chromated copper arsenate; circulating cathodic antigen; circumflex coronary… …   Medical dictionary

  • Connective tissue disease — Classification and external resources MeSH D003240 A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular …   Wikipedia

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  • Beals syndrome — (bēlz) [Rodney Kenneth Beals, American orthopedic surgeon, born 1931] congenital contractural arachnodactyly; see under arachnodactyly …   Medical dictionary


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