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.
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