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  • Jacobsen Syndrome: Description

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    Jacobsen syndrome results from a deletion of genetic material on chromosome 11 and causes intellectual disabilities, low platelet count, facial and skeletal abnormalities, and developmental delays. Common signs include wide-set eyes, an upturned nose, low-set ears, curved pinky and ring fingers, thin lips, a recessed chin, and large great toes or hammer toes. It affects motor skills, speech, cognitive abilities, and behavior.

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    Jacobsen syndrome results from a deletion of genetic material on chromosome 11 and causes intellectual disabilities, low platelet count, facial and skeletal abnormalities, and developmental delays. Common signs include wide-set eyes, an upturned nose, low-set ears, curved pinky and ring fingers, thin lips, a recessed chin, and large great toes or hammer toes. It affects motor skills, speech, cognitive abilities, and behavior.

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    2 views2 pages

    Jacobsen Syndrome: Description

    Uploaded by

    asimsaha9833
    Jacobsen syndrome results from a deletion of genetic material on chromosome 11 and causes intellectual disabilities, low platelet count, facial and skeletal abnormalities, and developmental delays. Common signs include wide-set eyes, an upturned nose, low-set ears, curved pinky and ring fingers, thin lips, a recessed chin, and large great toes or hammer toes. It affects motor skills, speech, cognitive abilities, and behavior.

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    2.

    Jacobsen syndrome

    Description:
    Jacobsen syndrome, also known as 11q deletion disorder, results from a
    loss genetic material from the end of the long arm of chromosome.
    Signs and symptoms of this condition vary, but most individuals
    experience delayed development in motor skills and speech, cognitive
    impairments, learning difficulties, and some behavioral problems.
    Signs and symptoms
    • Mild to severe intellectual disabilities

    • Low platelets (thrombocytopenia)

    • Facial/skeletal (dysplasia)

    • Wide-set eyes caused by trigonocephaly

    • Folding of the skin near the eye (epicanthus)

    • Short, upturned nose (anteverted nostrils)

    • Low-set, misshapen ears

    • Permanent upward curvature of the pinkie and ring fingers


    (campodactyly)

    • Thin lips that curve inward

    • Displaced receding chin(retrognathia)

    • Large great toes/Hammer toes

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