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.
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.
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.
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.