ALLMedicine™ Arachnodactyly Center
Research & Reviews 10 results
BMJ Case Reports; Miyake R, Ichikawa M et. al.
Mar 3rd, 2021 - Congenital contractural arachnodactyly (CCA) is a rare disease with the clinical features of limited extension of multiple joints, arachnodactyly, camptodactyly, thin and long extremities, and so on. In the point of long extremities, CCA resembles...
Molecular Genetics & Genomic Medicine; Hu L, Li H et. al.
Feb 28th, 2021 - Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, ...
European Journal of Medical Genetics; Kloth K, Neu A et. al.
Feb 12th, 2021 - Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Cl...
European Journal of Medical Genetics; Maya I, Kahana S et. al.
Jul 24th, 2020 - Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder, associated with heterozygous mutations in the FBN2 gene. The objective of this study was to evaluate the prevalence of an intragenic deletion encompassing exons 1-8...
Genetics in Medicine : Official Journal of the American C... Meerschaut I, De Coninck S et. al.
Jul 19th, 2019 - Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical prese...