3MC 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

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

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

Sources

No data available

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