8q12 microduplication syndrome

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

Disease overview

8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features

Common symptoms

Duane anomalydevelopmental delayhypotoniahearing impairmentlong palpebral fissureventricular septal defectatrail septal defect

WHEN TO SUSPECT

  • Recommendation 1

    Chromosomal microarray (CMA)

HOW TO TEST

  • Recommendation 1

    Chromosomal microarray (CMA)

TREATMENT

  • Recommendation 1

    Supportive Therapy Only

PRIMARY CARE

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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