8p23.1 duplication syndrome

Not yet reviewed

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

Disease overview

Rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8.

Common symptoms

Developmental delayprominent foreheadarched eyebrowsbroad nasal bridgeupturned narescleft lip/palateatrioventricular septal defectmacrocephalyattention deficit disorderhypotonia

When to suspect

  • Recommendation 1

    Chromosomal microarray (CMA) or targeted duplication analysis.

How to test

  • Recommendation 1

    Chromosomal microarray (CMA) or targeted duplication analysis.

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

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

Clinical Trials

Sources

No data available

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