Congenital Contractural Arachnodactyly

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Arthrogryposis, Distal, Type 9 - Beals Syndrome - CCA