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

* * *

(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:

  • Congenital contractural arachnodactyly — Beals syndrome Classification and external resources OMIM 121050 DiseasesDB 29326 Beals syndrome (Congenital contractural arachnodactyl …   Wikipedia

  • 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

  • Beals syndrome — congenital contractural arachnodactyly …   Medical dictionary

  • 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

  • Myopathy — Classification and external resources ICD 10 G71 G72, M60 M …   Wikipedia

  • Inflammatory myopathy — Classification and external resources Micrograph of dermatomyositis, a type of inflammatory myopathy. Muscle biopsy. H E stain …   Wikipedia

  • Hypermobility — Classification and external resources [[File: |frameless|upright=1.06|alt=]] Hypermobile fingers and thumb ICD 10 M35.7 …   Wikipedia

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