label: Congenital Contractural Arachnodactyly
label_lc: congenital contractural arachnodactyly
description: An autosomal dominant connective tissue disorder caused by mutation(s) in the FBN2 gene, encoding fibrillin-2. It is characterized by contractures, arachnodactyly, scoliosis, micrognathia, and crumpled ears.