3M 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

Autsomal recessive growth disorder caused by mutations in one of three genes: CUL7, OBSL1, and CCDC8

Common symptoms

Abnormality of the metaphysisaverted naresbroad foreheadbulbous nosedelayed skeletal maturationshort staturehypoplastic pelvis

WHEN TO SUSPECT

  • Recommendation 1

    Identification of biallelic pathogenic variants in CCDC8, CUL7, or OBSL1 can establish the diagnosis

HOW TO TEST

  • Recommendation 1

    Identification of biallelic pathogenic variants in CCDC8, CUL7, or OBSL1 can establish the diagnosis

TREATMENT

  • Recommendation 1

    Surgical bone lengthening or adaptive aids for people with short stature are appropriate

PRIMARY CARE

  • Recommendation 1

    Adaptive aids, surgery, and endocrine referral for puberty ages

FURTHER SUPPORT

  • Recommendation 1

    Little People of America recommends various 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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