3MC 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

3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs.

Common symptoms

Hypertelorismblepharophimosishighly arched eyebrowscleft lip/palatepostnatal growth deficiencycognitive impairmenthearing loss Craniosynostosisradioulnar synostosiscardiac defects

When to suspect

  • Recommendation 1

    Clinical symptoms and genetic testing including targeted sequencing of the 3 genes COLEC10, COLEC11 and MASP1/3

How to test

  • Recommendation 1

    Clinical symptoms and genetic testing including targeted sequencing of the 3 genes COLEC10, COLEC11 and MASP1/3

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 Treatment Only

Primary care

  • Recommendation 1

    Appropriate special referrals

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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