Learn About Rare Disease >    Dup15q Syndrome

Dup15q Syndrome

Dup15q syndrome is a rare neurodevelopmental disorder with a spectrum of severity. Most patients experience developmental delays, distinct facial features, seizures, and low muscle tone.

Key characteristics and symptoms of Dup15q Syndrome


Distinct facial features: Patients with Dup15q have similar facial distinctions that include a button nose, skin folds at the inner corners of the eyes, abnormal ears, and abnormal skin pigmentation.

Developmental delays: Patients with Dup15q are often delayed in their ability to sit up on their own, walk, and speak – some patients are never able to speak.


  • Seizures
  • Low muscle tone
  • Behavior problems
  • Feeding problems
  • Constipation

How is Dup15q syndrome diagnosed?

A diagnosis of Dup15q syndrome is suspected based on symptoms but can be confirmed through genetic testing that identifies duplication in part of chromosome 15.

How is Dup15q syndrome treated?

Currently there is no cure for Dup15q syndrome. Patients are treated for their symptoms, not for the underlying cause of the disease. Medications and therapies can be used to alleviate symptoms. Researchers are 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.