Study summary
Arthrogryposis describes a group of conditions where people are born with stiff or fixed joints. It affects approximately 1 in 3000 babies. This is nearly 200 babies in the UK each year. Sometimes it is very severe. It may involve little or no movement of the baby during pregnancy and sometimes pregnancy loss. Some people may live a normal life span but have physical disabilities or other health problems.
Arthrogryposis can look very different between people and can be caused by different genes. This makes it difficult and slow to find the condition. It is important to share information with families who are affected. This will help to create management plans for patients. Genetics counselling and testing for their families can be offered. Recent changes in genetic testing have made it easier to find arthrogryposes. But there are still many people that are undiagnosed. In this study, we plan to look at a group of undiagnosed arthrogryposis patients. We will look at genetic changes and the genes that are involved. This will improve our understanding of how this condition develops.