Genetic condition awaiting consideration - Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia is an autosomal dominant condition caused by mutations in the MATN3 gene.
There are abnormalities of the end of all the long bones, which grow and mineralize (ossify) abnormally. This leads to multiple joint pains and an early need for surgical joint replacement in the more severely affected joints (e.g. bilateral hip replacement in the 20s).
There is no cure and patients suffer from lifelong pain and easy fatigue, and have significant short stature (e.g at 5 years a child may only be the height of a 2 year old).
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email your feedback to: pgd@hfea.gov.uk
You can also sign up to our PGD update email alert service which will keep you up to date, on a monthly basis, with information on the latest conditions added to the authorised list and conditions that are awaiting approval about which you can provide comments.
Page last updated: 14 December 2012