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:
contractures, multiple with arachnodactyly,
NCI:C129865,
SNOMEDCT_US_2023_03_01:205821003,
arachnodactyly, contractural Beals type,
ear anomalies-contractures-dysplasia of bone with kyphoscoliosis,
