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| Disease found: | 3MC syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. [more info] |
| Signs and Symptoms: | Hypertelorism, blepharophimosis, highly arched eyebrows, cleft lip/palate, postnatal growth deficiency, cognitive impairment, hearing loss Craniosynostosis, radioulnar synostosis, cardiac defects [more info] |
| Diagnosis: | Clinical symptoms and genetic testing including targeted sequencing of the 3 genes COLEC10, COLEC11 and MASP1/3 [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Appropriate special referrals [more info] |
| Referral: | 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: | None are available, but can sign up to be notified when one becomes available |