Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

An investigation conducted on two large Han Chinese families with distinctive limb malformations indicates the existence of genotype-phenotype correlation for the limb morphopathies caused by HOXD13 mutations. However, the same minor malformations may be associated with the different limb clinical abnormalities and therefore different limb malformations due to distinct classes of HOXD13 mutations should be considered a continuum of phenotypes.