2q37 deletion syndrome

Not Verified
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 a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2

Common symptoms

Developmental delayautistic behaviorcharacteristic facial features (midface retrusionround faceanteverted naresdepressed nasal bridge)and other physical abnormalities (short bones of the hand and of 3-5 fingersscoliosishypotoniaumbilical/inguinal herniatracheomalaciagastrointestinal abnormalitiesand kidney malformations).

WHEN TO SUSPECT

  • Recommendation 1

    Chromosome analysis confirms the diagnosis of 2q37 deletion syndrome.

HOW TO TEST

  • Recommendation 1

    Chromosome analysis confirms the diagnosis of 2q37 deletion syndrome.

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

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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