Hereditary Cancer and Genetic Testing

Other medical concerns for people with inherited CDH1 mutations

Cleft lip and cleft palate (abnormalities of the lip or roof of the mouth that are present at birth) may be associated with an inherited CDH1 mutation. 

A very rare syndrome called blepharocheilodontic (BCD) syndrome is found with some people witn inherited mutations in CDH1. This disorder is present at birth and causes abnormalities mainly affecting the eyelids and mouth, including openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Despite the association of CDH1 gene mutations with increased cancer risk, it is unclear whether all people affected by this syndrome are at increased risk of developing cancer.

There are options using assisted reproduction technology and preimplantation genetic diagnosis for parents  to select embryos that are free of inherited CDH1 mutations.