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.
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.
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.
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.
Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at info@ambitinc.com today.
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Disclaimer
Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.
