angelman syndrome physical characteristics - Search
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  1. Contact your provider if experiencing new, severe, or persistent symptoms.

    The symptoms include:

    • Impaired speech
    • Ataxia
    • Scoliosis- curvature of the spinal cord
    • Happy and excitable
    • Seizures and convulsions beginning at age 2
    • Have reduced sleeping time compared to other children
    • Short attention span
    • Frequently sticking out the tongue
    • Hair, skin, eyes are pale

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    Causes

    Verified Expert

    • The condition is caused by loss of function of UBE3A gene
    • This can result from mutation or deletion of the gene.
    • It may also occur as a result of inactivation of the gene due to other chromosomal changes.
    • In rare cases, a child may inherit two copies of inactive forms of the gene instead of one active and one inactive (uniparental disomy).

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    Prevention

    Verified Expert

    This condition cannot be prevented. But if there is a family history, it is recommended to get genetic counseling before pregnancy.

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    Treatment

    Verified Expert

    Treatment involves the use of anti-seizure drugs, surgery or physiotherapy.

    Medication

    Anti-seizure medication: To control seizures.

    Eslicarbazepine . Carbamazepine

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  2. Angelman syndrome is a genetic disorder that affects the nervous system. Characteristic physical features of Angelman syndrome include12:
    • Flattened back of the head (microbrachycephaly)
    • Deep-set eyes
    • Wide, ever-smiling mouth
    • Prominent jaw and widely spaced teeth
    • Lightly pigmented hair, skin and eyes
    • Unusually fair skin with light-colored hair (in adults)
    • Abnormal side-to-side curvature of the spine (scoliosis) (in adults)
    Learn more:
    The characteristic physical features of this condition are not always obvious at birth, but evolve during childhood. Characteristic physical features of Angelman syndrome include: flattened back of the head (microbrachycephaly) deep-set eyes wide, ever-smiling mouth prominent jaw and widely spaced teeth lightly pigmented hair, skin and eyes.
    www.betterhealth.vic.gov.au/health/conditionsandtr…
    Adults with Angelman syndrome have distinctive facial features that may be described as " coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis).
    medlineplus.gov/genetics/condition/angelman-synd…
     
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    WEBAug 8, 2023 · The major hallmark of presentation of Angelman syndrome (AS) is characterized by movement and balance disorder (ataxia), speech deficits (absent or minimal), psychomotor delay, inappropriate …

  7. Angelman Syndrome: What It Is, Symptoms

    WEBAngelman syndrome is a rare neurodevelopmental condition that causes intellectual disability, speech impairment and movement issues. It’s caused by problems with the UBE3A gene and may have some distinctive …

  8. Angelman Syndrome - GeneReviews® - NCBI Bookshelf

    WEBSep 15, 1998 · Angelman syndrome (AS) is characterized by severe developmental delay and intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior …

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    WEBLearn about the genetic causes, features, and inheritance of Angelman syndrome, a complex disorder that affects the nervous system. Find out how this condition can cause delayed development, intellectual …

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    WEBOct 9, 2023 · Angelman syndrome is a rare genetic disorder that causes developmental and intellectual disability, movement problems, seizures, and an atypically happy demeanor. Learn about the physical …

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    WEBAngelman syndrome is a rare genetic disorder characterized by severe developmental delay, intellectual disability, speech impairment, and problems with balance and coordination. While the condition is …

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