Congenital contractural arachnodactyly, abbreviated CCA and also known as Beals-Hecht syndrome, is a rare inherited connective tissue disorder present from birth. It follows an autosomal dominant pattern, so a single altered copy of the responsible gene is enough to produce the condition. People with CCA typically have an arm span greater than their height and very long fingers and toes, features that resemble those seen in Marfan syndrome. The two conditions are told apart at the level of genetics: Beals and Hecht reported in 1972 that CCA arises from mutations in the fibrillin-2 gene, known as FBN2, whereas Marfan syndrome involves the fibrillin-1 gene, FBN1. This entry summarizes what the source lead states and is a record of the condition, not medical advice.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. Congenital contractural arachnodactyly (Wikipedia)
Lead sentence
is a rare autosomal dominant congenital connective tissue disorder
Lead, second sentence
CCA is caused by mutations to the fibrillin-2 (FBN2) gene
Lead, second sentence [first-described-year]
Beals and Hecht discovered in 1972
Lead: disease category
Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder.
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