congenital contractural arachnodactyly

A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.

Signs and symptoms

• Increased upper to lower segment ratio
• Knee flexion contracture
• Elbow flexion contracture
• Congenital finger flexion contractures
• Limited elbow extension
• Limited knee extension
• Arachnodactyly
• Camptodactyly
• Crumpled ear
• Scoliosis

Also known as: Beals syndrome; Beals-Hecht syndrome; CCA; arachnodactyly, contractural Beals type; contractures, multiple with arachnodactyly