Learn About Rare Disease >    Pitt Hopkins Syndrome

Pitt Hopkins Syndrome

Pitt Hopkins syndrome is a rare neurodevelopmental disorder characterized by distinct facial features, intellectual disability, and breathing abnormalities.

Key characteristics and symptoms of Pitt Hopkins syndrome


Distinct facial features: Patients with Pitt Hopkins syndrome typically have similar facial features that may include a narrow forehead, wide mouth, full lips, deep set eyes, a flared nose, and a broad nasal.

Intellectual disability: All Pitt Hopkins patients have intellectual disability that ranges from mild to severe.


  • Seizures
  • Breathing abnormalities
  • Speech impairment
  • Constipation
  • Movement problems
  • Behavior problems

How is Pitt Hopkins syndrome diagnosed?

A diagnosis of Pitt Hopkins is made based on symptoms but can be confirmed through genetic testing that identifies a mutation in the TCF4 gene.

How is Pitt Hopkins syndrome treated?

Currently there is no cure for Pitt Hopkins. Patients are treated for their symptoms, not for the underlying cause of the disease. Medications and therapies can be used to alleviate symptoms. There are currently companies investigating treatments Pitt Hopkins and researchers analyzing patient data to better understand the condition so a cure may be found.

AmbitCare can help you understand how rare disease might be part of your story.

The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.

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Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at info@ambitinc.com today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.