Williams Syndrome.docx

Williams Syndrome Type of mutation Caused by the spontaneous deletion of 26-28 genes on chromosome 7. The deletion occurs at the time of conception. How common is it? It affects 1 in 20 000 live births Diagnosis Diagnosed through a blood test. Many individuals remain undiagnosed or are diagnosed at a very late age. Common symptoms - Congenital heart disease - Characteristic facial appearance – supreorbital fullness, prominent cheeks, full lips - Outgoing personality - Hypotonia - Intellectual disability – developmental delays, learning difficulties, poor spatial skills, adhd - Weight and growth problems - Dental problems - Colic - Kidney problems - Elevated calcium levels Treatments - Speech therapy - Regular medical monitoring of heart and blood vessel defects - Surgery to correnct said defects - Dental and orthodontic treatment - Physio - Occupational therapy -

Bibliography https://williams-syndrome.org/faq https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1471-0528.2004.00109.x