Term Name: | congenital contractural arachnodactyly |
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Synonyms: | arachnodactyly, contractural Beals type, Beals syndrome, Beals-Hecht syndrome, CCA, contractures, multiple with arachnodactyly, distal arthrogryposis type 9, ear anomalies-contractures-dysplasia of bone with kyphoscoliosis |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111595] ( DOID:0111595 ) |