Distinct facial features: MWS patients have similar facial distinctions that include a square-shaped face, deep set and widely spaced eyes, a prominent and pointed chin, a broad nasal tip, large and flaring eyebrows, and uplifted earlobes.
Developmental delays: Sitting, crawling, and walking is significantly delayed in MWS patients. All patients with MWS develop some degree of intellectual disability and most will be severe.
A diagnosis of MWS can be made based on symptoms but can be confirmed through genetic testing that identifies a mutation in the ZEB2 gene.
Currently there is no cure for MWS. Patients are treated for their symptoms, not for the underlying cause of the disease. Medications and therapies can be used to alleviate symptoms. MWS advocacy groups are working to collect patient data so researchers may analyze the findings and 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.
Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.
© 2021 Ambit Care. All Rights Reserved.
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.
