This is an autosomal dominant highly penetrant cancer-susceptibility syndrome causedby germline mutations inone oftheDNAmismatch repair genes, MLH1, MSH2, MSH6, PMS2 and PMS 1. Affected individuals have apredispositionto developing early onset colorectal cancer and endometrial cancer, and less commonly ovarian, small intestine, stomach, biliary tract, pancreatic, brain and uroepithelial tract c...

An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.