Clinical syndromes with combined cranial and limb defects

Abstract

The association between different congenital anomalies, in the form of recognisable single gene syndromes, provides possible clues to developmental genes or processes that are common to more than one body region. Many syndromes, although apparently genetically distinct, do show phenotypic similarities. Such communities of syndromes might reflect common developmental pathways. This paper reviews some human syndromes associated with both craniofacial and limb defects, concentrating on conditions that have either been mapped or where specific mutations have been identified, or which form part of an apparent syndrome community.