Autosomal dominant (AD), and less commonly autosomal recessive, mutations in FBN1 result in the skeletal, cardiovascular and ocular features of Marfan syndrome (MIM #154700), whereas AD FBN2 mutations typically affect skeletal regions in arthrogryposis, in which patients usually present with long digits, distal joint contractures and crumpled ears, but rarely with ocular or cardiovascular complications. The gene discussed is FBN2; the disease is Marfan syndrome.