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:
distal arthrogryposis type 9,
121050,
OMIM:121050,
Beals syndrome,
UMLS_CUI:C0220668,
contractures, multiple with arachnodactyly,
Beals-Hecht syndrome,
ear anomalies-contractures-dysplasia of bone with kyphoscoliosis,
