Genetic condition awaiting consideration - Pontocerebellar hypoplasia (type 6, 4, 3, 2d, 2c, 2b, 2a, 1a)
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain.
People with these conditions have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement.
A region of the brain called the pons also fails to develop properly. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.
All forms of this condition are characterized by abnormal brain development, problems with movement, delayed development, and intellectual disability.
The signs and symptoms are usually present at birth, and in some cases they can be detected before birth.
Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.
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: pgd@hfea.gov.uk
Page last updated: 03 July 2013