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    Williams Syndrome is caused by a spontaneous deletion of 26-28 genes on chromosome 7 that occurs during conception. It affects 1 in 20,000 live births and is diagnosed through a blood test, though many cases remain undiagnosed. Common symptoms include congenital heart disease, characteristic facial features, an outgoing personality, intellectual disability, weight and growth problems, and dental issues. Treatments involve speech, medical, dental therapies as well as surgery to address heart defects.

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    Williams Syndrome is caused by a spontaneous deletion of 26-28 genes on chromosome 7 that occurs during conception. It affects 1 in 20,000 live births and is diagnosed through a blood test, though many cases remain undiagnosed. Common symptoms include congenital heart disease, characteristic facial features, an outgoing personality, intellectual disability, weight and growth problems, and dental issues. Treatments involve speech, medical, dental therapies as well as surgery to address heart defects.

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    10 views1 page

    Williams Syndrome

    Uploaded by

    amelia
    Williams Syndrome is caused by a spontaneous deletion of 26-28 genes on chromosome 7 that occurs during conception. It affects 1 in 20,000 live births and is diagnosed through a blood test, though many cases remain undiagnosed. Common symptoms include congenital heart disease, characteristic facial features, an outgoing personality, intellectual disability, weight and growth problems, and dental issues. Treatments involve speech, medical, dental therapies as well as surgery to address heart defects.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
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    of 1

    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

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