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GENATLAS PHENOTYPE
last update : 7/12/2005
Symbol CCA
Location 5q23.3
Name contractural arachnodactyly, congenital, Marfan-like disorder
Other name(s) Beals syndrome
Corresponding gene FBN2
Other symbol(s) DA9
Main clinical features
  • distal arthrogryposis, camptodactyly, crumpled ears and mild contractures in the elbows, knees, hips and hypoplasia of calf muscles
  • dolichostenomelia, scoliosis and pectus deformity
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name fibrillin 2 (FBN2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other     between exons 24 and 34, with the most severe form due to exon 34 skipping
    missense   truncated protein causing cysteine substitution in EGF repeats
    Remark(s) a G3340C altering the donor splice site consensus, a partial skipping of exon 31