2q23.1 microdeletion 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

Random disorder caused by the loss of a small piece of DNA in one copy of chromosome 2, one of the 23 pairs of chromosomes in each cell in our bodies.

Common symptoms

Motor stereotypydelayed speechseizureataxiabrachycephalyclinodactyly of the 5th fingercoarse facial featuresconstipation

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing

  • Recommendation 2

    microarrays (array-CGH) or targeted cytogenetic testing using FISH

HOW TO TEST

  • Recommendation 1

    Genetic testing

  • Recommendation 2

    microarrays (array-CGH) or targeted cytogenetic testing using FISH

TREATMENT

  • Recommendation 1

    Anti-seizure medications for seizure treatment, melatonin for sleep

PRIMARY CARE

  • Recommendation 1

    Appropriate referral to specialists and speech therapy, behavior therapy, physical, occupational therapy, and special education programs

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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