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| Disease found: | 3M syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autsomal recessive growth disorder caused by mutations in one of three genes: CUL7, OBSL1, and CCDC8 [more info] |
| Signs and Symptoms: | Abnormality of the metaphysis, averted nares, broad forehead, bulbous nose, delayed skeletal maturation, short stature, hypoplastic pelvis [more info] |
| Diagnosis: | Identification of biallelic pathogenic variants in CCDC8, CUL7, or OBSL1 can establish the diagnosis [more info] |
| Treatment: | Surgical bone lengthening or adaptive aids for people with short stature are appropriate [more info] |
| Clinical Management: | Adaptive aids, surgery, and endocrine referral for puberty ages [more info] |
| Referral: | 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: | None are available, but can sign up to be notified when one becomes available |