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.
synonyms:
arachnodactyly, contractural Beals type,
distal arthrogryposis type 9,
OMIM:121050,
ear anomalies-contractures-dysplasia of bone with kyphoscoliosis,