Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome caused by mutations in or deletions of the tcf4 gene.

The symptoms of PTHS become more apparent in childhood and can include characteristic facial features (wide mouth, widely spaced teeth and cupid bow top and full bottom lips), learning difficulties, seizures, episodes of unusual breathing patterns and chronic constipation. If you would like to read more about the symptoms of PTHS, please click here.

People with PTHS are usually very happy and affectionate but can become frustrated when they find it difficult to communicate.

As PTHS is so rare it is difficult to find out exactly how many people have it. It has been suggested by one geneticist that the number of people with PTHS is likely somewhere between 1 in 225,000 to 1 in 300,000.

It is thought that there are about 300 cases already diagnosed in the UK. This fits more with the latter estimate of about 4 in about a million!

Although PTHS was first described in 1978 by Drs Pitt and Hopkins, researchers did not discover that tcf4 mutations caused PTHS until 2007. At that point, only 7 or 8 people had been diagnosed with PTHS. Since then, a genetic test – which is usually performed as a blood test – has been developed and many more people with PTHS have been correctly diagnosed.

Pitt Hopkins UK is in touch with just over a quarter of these families. If you think your child has Pitt-Hopkins syndrome and you would like to join the support group please contact us by emailing sue@pitthopkins.org.uk. We have a Google support group and a closed Facebook group  for parents and grandparents.