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 large 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.
Because PTHS is so rare it is difficult to find out exactly how many people have it. Opinions show that the number of people with PTHS could range from 1 in 34 000 to 1 in 250 000.
It is thought that there are about 200 cases already diagnosed in the UK.
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 – a group of parents whose children have PTHS – is in touch with just over a quarter (60) of these families. If you think your child has PTHS and you would like to join the support group please contact us by emailing email@example.com.