2p15p16.1 microdeletion syndrome

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Disease overview

Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability.

Common symptoms

Various physical (Blepharophimosisdownslanted palpebral fissuresepicanthuseverted lower lip vermilionmicrocephalynarrow mouthoptic atrophypachygyriahypoplastic corpus callosum) and mental disabilities (Attention deficit hyperactivity disorderautismgrowth delay)

WHEN TO SUSPECT

  • Recommendation 1

    Molecular techniques such as MLPA or microarrays (array-CGH) or targeted cytogenetic testing using FISH

HOW TO TEST

  • Recommendation 1

    Molecular techniques such as MLPA or microarrays (array-CGH) or targeted cytogenetic testing using FISH

TREATMENT

  • Recommendation 1

    Supportive Treatment 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

Sources

No data available

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