“A genetic disorder that causes severe disabilities in children and adults has been discovered by researchers who believe the newly identified condition could affect hundreds of thousands of people around the world.

Scientists have already diagnosed hundreds of people in the UK, Europe and the US after examining their DNA and spotting mutations in the gene linked to the disorder. Far more are expected to be found as further testing takes place.

The condition causes severe developmental delay and many of those diagnosed are unable to speak, are fed through a tube and have seizures. The disorder produces characteristic facial features, such as large cupped ears, full cheeks and a mouth with downturned corners.”

From The Guardian.