Pitt Hopkins Syndrome

Also known as

  • PTHS

PTHS is an ultra rare neuro-developmental disorder. It is characterized by severe learning difficulties and developmental delay (episodic hyperventilation and/or breath-holding while awake) epilepsy, GI issues and distinctive facial features.

Condition details

A wide mouth with a cupid bow upper lip, full lower lip and widely spaced teeth These are not so obvious in babies but become more obvious during childhood. Developmental delay noticeable before the baby’s first birthday. People with PTHS are usually shorter than their family members. Moderate or severe learning difficulties. Many children with PTHS will only learn to say a few words, or may not learn to speak at all, but can understand a lot of what is said to them.Some can speak quite well. Low muscle tone (hypotonia). Although most children with PTHS do learn to walk around the age of 4 to 6 many walk with a wide, unsteady gait. Episodes of unusual breathing. Just over half of people with PTHS have episodes where they breathe very quickly (hyperventilate) followed by episodes where they don’t breathe for a time (apnoea). Epilepsy or seizures. Constipation Reflux Small, clubbed or fleshy fingers and toes. (fetal pads) Undescended testes Short sightedness or a squint.

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Photos of affected individuals

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Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult


Lay terms Clinical terms
  • milestones delayed
  • undescended testes common in boys
  • babies have very low muscle tone which affects motor development
  • global developmental delay
  • central hypotonia
Lay terms Clinical terms
  • Delayed milestones.Many will be able to sit but few will be walking. Low muscle tone will be more obvious
  • global developmental delay central hypotonia
Child 4-10
Lay terms Clinical terms
  • Low muscle tone
  • Many will walk somewhere between 4 and 6
  • Unusual breathing patterns may begin. Fast breathing and / or periods of no breathing while awake
  • Some children will develop seizures
  • Many children have problems with constipation
  • Some children have reflux when stomach acids come back into the food pipe and damage it.
  • Hypotonia
  • delayed motor development
  • Episodic hyperventilation and/or daytime apnoea
  • Epilepsy
  • Chronic constipation
  • Reflux
Child 10-18
Lay terms Clinical terms
  • Foot problems
  • when the feet go over are more noticeable and most children will need special footwear.Some children need an operation to correct the foot position
  • Orthopaedic problems necessitating the wearing of AFOs (ankle feet orthotics ) to correct the position of the foot to aid walking and sometimes an operation pinning the foot.

Affected genes identified to date

  • TCF4 .This is on Chromosome 18 q at 21.2 The TCF4 can be deleted or have a mutation

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

PTHS occurs when something happens to the TCF4 gene at conception. Rarely a parent may have a mosaic case of PTHS i.e. some of their cells have a deletion of or mutation in the TCF4 gene.If egg or sperm are affected the baby will have PTHS.

How many are affected?

Around 200 diagnosed in the UK at this time.

Support groups and organisations

Mrs Sue Routledge
Pitt Hopkins UK
Middelgeestlaan 6
2251 RZ
The Netherlands
Tel 07156 17167

Known experts

Field of interest
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