Professor David FitzPatrick: Medical and Developmental Genetics
Our research group at the MRC Human Genetics Unit in Edinburgh have identified changes in genes called SATB2 and SOX9 that are rare causes of facial clefts. These genes are involved both in the growth of the facial processes. Currently we can only find a genetic cause for a very small number of cleft lip and cleft palate cases. We are now extending our studies of these and other genes that act during facial development to improve our understanding of these conditions.
If you wish to discuss any aspect of this study further please contact the doctor listed below:
Professor David FitzPatrick MD FRCP(Edin)
Medical Genetics Section
MRC Human Genetics Unit
Western General Hospital
Edinburgh EH4 2XU
Email: david.fitzpatrick@igmm.ed.ac.uk
If you have any concerns or complaints arising from this research study please contact:
Dr Kate Wilson, Administrative Director, MRC Human Genetics Unit, Edinburgh EH4 2XU.
Download UK Consent and Information Forms
Information Sheets
Parent Information Sheet (Word File)
Capable Adult Information Sheet (Word File)
Child Information Sheet (Word File)
Incapable Adult Information Sheet (Word File)
Consent Forms
Parent Consent Form (Word File)
Adult (unable to consent for themselves) Form (Word File)
Capable Adult Consent Form (Word File)
Child Consent Form (Word File)
Questionaires
The Genetic Basis of Eye Malformations
(Word File)
These fall into three parts:
- The Eye Malformation Study (information and consent forms)
- The Facial Cleft Study (information and consent forms) (this page)
- Cornelia de Lange Syndrome Study
“Our aim is to identify genes that cause cleft of the upper lip, hard palate (roof of the mouth) and soft palate. Finding such genes will help improve our understanding of how these disorders occur.”
This knowledge may eventually help in the management and treatment of these conditions. Our research can also help understand how these genes function normally in human development.
We are keen to recruit new cases affected with:
- Pierre Robin Sequence (also known as Robin Syndrome)
- Acrofacial dysostosis (Nager Syndrome or Miller Syndrome)
- Malpuech syndrome
- Cases of cleft lip and/or cleft palate associated with chromosomal abnormalities
The craniofacial region begins developing in the early embryo with the growth and fusion of mounds of tissue called facial processes. The facial processes that form the lower jaw (mandible) fuse first. Then processes that form the upper jaw (or maxilla) fuse with the process that will form the nose to create the upper lip. In about 1 in 700 babies this process fails causing a cleft lip that can be left-sided, right-sided or on both sides (bilateral). If the lip fails to fuse then it is more likely that the roof of the mouth will also not fuse properly resulting in a cleft palate. Cleft palate can also occur without cleft lip. This is called isolated cleft palate and occurs in about 1 in1000 babies in Scotland. 20% of children with isolated cleft palate also have a problem with the growth of the lower jaw that can result in breathing problems. This condition is called Pierre Robin Sequence.