Living with Pitt-Hopkins syndrome
A genetic condition causing intellectual disability, developmental delay, breathing problems, seizures and distinctive facial features.
Understanding Pitt-Hopkins syndrome
People have moderate to severe intellectual disability and are slow to walk. Most do not develop speech, though some learn a few words. Many have features of autism. Breathing episodes of fast breathing followed by slow or paused breathing happen while awake, and most people have epilepsy. Signs usually start in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little or no speech
- Trouble with balance and walking (ataxia)
- Unusual breathing patterns
- Smaller than usual head (microcephaly)
- Nearsightedness and crossed eyes
- Constipation and acid reflux
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TCF4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pitt Hopkins Research Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Pitt Hopkins Research Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pitt Hopkins Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TCF4 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: encephalopathy, severe epileptic, with autonomic dysfunction; pths; pths - pitt-hopkins syndrome
Patient organizations
- Pitt Hopkins Research FoundationPitt-Hopkins syndrome · United States
- Chromosome 18 Registry & Research SocietyPitt-Hopkins syndrome · United States
- Child Neurology FoundationPitt-Hopkins syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Pitt-Hopkins syndrome.
Explore research for Pitt-Hopkins syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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