Human genes for congenital contractural arachnodactyly
Congenital contractural arachnodactyly [DOID:0111595]
A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3.
Synonyms: congenital contractural arachnodactyly, congenital contractural arachnodactylies, DOID:0111595, arachnodactyly, contractural Beals type, Beals-Hecht syndrome ...