16q24.3 microdeletion syndrome

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Disease overview

Inherited or random mutation disorder caused by microdeletion on the 24.3 region chromosome 16 causing autism, intellectual disabilities and physical development deficits.

Common symptoms

Autismintellecual disabilityand physical deficits/manifestations (high foreheadprotruding earcolpocephalyfrontal bossinghigh palatehypoplasia of corpus collosum)

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing using comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH)

HOW TO TEST

  • Recommendation 1

    Genetic testing using comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH)

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

PRIMARY CARE

  • Recommendation 1

    Various forms of therapy

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

Sources

No data available

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