Genetic condition awaiting consideration - Fried Syndrome
Fried syndrome is a rare X-linked condition leading to intellectual disability, which is usually severe.
Other symptoms that have been described in affected individuals have included: low muscle tone in childhood with delayed walking and motor development, spastic diplegia (a form of cerebral palsy), poor language skills, difficult and aggressive behaviour, hydrocephalus, calcification of the basal ganglia (a brain finding visible on MRI scan), and mild facial dysmorphism(unusual facial appearance).
Fried syndrome is caused by mutations in the AP1S2 gene and follows an X-linked pattern of inheritance. Therefore, only males are affected with the disease and carrier women have a 50% chance of having an affected son. There are no reports of carrier females manifesting any symptoms of the condition.
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 February 2013