Pitt Hopkins syndrome


Pitt Hopkins syndrome was first described in 1978 but was not commonly recognised until 2007 when the underlying genetic cause of the condition was identified. The condition is characterised by severe learning disability, breathing abnormalities and characteristic facial features.


Medical text written January 2009 by Jill Clayton-Smith.  Last revised May 2016 by Jill Clayton-Smith. Consultant Clinical Geneticist, St Mary’s Hospital, Manchester, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

The main symptoms of the condition are severe intellectual disability, breathing abnormalities with intermittent periods of overbreathing and breath holding, and characteristic facial features including a wide mouth, prominent lips and deep-set eyes. Individuals with Pitt Hopkins syndrome are often short compared to other family members and may have a smaller head size. Seizures (see entry Epilepsy) may be present and brain scans often show some specific abnormalities. There are minor differences in the shape of the fingers and slim feet, often with shorter fourth and fifth toes. Constipation may also be a problem. Speech is very limited in Pitt Hopkins syndrome, often to a few words. It has been noted that many people with Pitt Hopkins syndrome have a tendency to smile frequently and this characteristic, together with some unsteadiness on walking leads to the diagnosis often being confused with Angelman syndrome. The breathing abnormalities, sometimes associated with colour change, are not present in every person and may not appear until mid-childhood. This diagnosis is therefore often made relatively late. Another commonly described characteristic is shaking the head in a “figure of eight” movement.

What are the causes?

Pitt Hopkins syndrome is caused by abnormalities of a gene called TCF4 on chromosome 18q21.2. The TCF4 gene controls the activity of many other genes and together with them plays an important part in how the brain develops and functions.

How is it diagnosed?

The diagnosis of Pitt Hopkins syndrome is often recognised by experienced doctors when they see and examine an affected individual, and can therefore sometimes be made without any tests. However, in most cases it will be confirmed by genetic testing of the TCF4 gene. The tests should look for both a single spelling mistake within the gene (point mutation) or for evidence that the TCF4 gene is partly or wholly missing (deletion) as either can cause Pitt Hopkins syndrome.

How is it treated?

There is no specific treatment available for Pitt Hopkins syndrome at the present time. Children with the condition can acquire some skills, and many eventually learn to walk.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Most cases are sporadic, meaning the gene change responsible for the condition usually occurs for the first time in the affected child.

Prenatal diagnosis
Prenatal diagnosis for this condition is possible if a gene change is identified and testing of parents and genetic counselling is recommended for families with an affected child, though risks of recurrence are low.

Is there support?

Pitt Hopkins UK

Email: sue@pitthopkins.org.uk
Website: pitthopkins.org.uk

Pitt Hopkins UK are a Registered Charity No.1167153 and they provide up to date information and support for families with children with Pitt Hopkins Syndrome. They also offer a Facebook page, an online support group and a useful free app called Pitt Hopkins.

Group details last updated July 2016

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