Researchers have identified the cause of this rare disorder of palate development as being due to a variant in a gene called FOXF2. This is an amazing discovery and the findings have just been published in a paper written by Dr Rimante Seselgyte and Professor Philip Stanier and colleagues, published in the Journal of Dental Research.

An Egyptian boy, Youssef, had a history of occasional nasal regurgitation while breastfeeding in infancy, followed by speech and language delay and hypernasality. On examination by CLEFT Chairman and plastic surgeon Brian Sommerlad in 2015 at Great Ormond Street Hospital, it was noted that the boy's uvula (the dangling bit at the back of the soft palate) was missing and there were some other abnormalities of the opening from the mouth to the throat. Youssef, age 3, was successfully operated on and during subsequent appointments held in both the UK and Egypt, it came to light that seven other member's on his father's side of the family had the same condition. The family history was highly significant as CLEFT researchers could confirm it was an inherited condition and then went on to use the data from the whole family to pinpoint the causal gene. Following the surgery and some speech therapy in Egypt, Youssef's speech is normal and he is doing well at school.

This important piece of work has taken four years to research and identify and is another piece in the jigsaw trying to identify the causes of clefts. It is part of a global effort to identify the genes responsible for congenital abnormalities. Professor Stanier said "The discovery of a new gene responsible for palate development is very exciting. It will be important to find out if further families share a similar palate defect as a consequence of variants in this gene."

The FOXF2 research is one of the many projects currently funded by CLEFT, paid for with money raised by our donors and fundraisers.