22q13.3 deletion syndrome

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This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

Deletion of a small piece of chromosome 22 near the end of the long arm of the chromosome at a location designated as q13.3 sometimes including the loss of the SHANK3 gene

Common symptoms

Various physical especially facial (hypotonialong eyelashesdown slanting eyeslarge earsears without normal foldingbulb-like tip of nosepointed chinlarge handschronic diarrheaconstipationor gastroesophageal refluxseizures) and mental disabilities (intellectual disabilitydevelopmental delays especially delayed or absent speechautism-like behavior)

WHEN TO SUSPECT

  • Recommendation 1

    FISH testing and Array-based CGH

HOW TO TEST

  • Recommendation 1

    FISH testing and Array-based CGH

TREATMENT

  • Recommendation 1

    Supportive Treament Only

PRIMARY CARE

  • Recommendation 1

    Appropriate referral to specialists and therapy mental deficits

FURTHER SUPPORT

  • Recommendation 1

    No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    Few clinical trials are currently recruiting

Sources

No data available

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