Term Name: congenital contractural arachnodactyly
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 )

Relationships
is a type of: autosomal dominant disease distal arthrogryposis physical disorder