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3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
Biomarker and diagnostic research for 3MC syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 3MC syndrome.
119 publications have been identified in PubMed for 3MC syndrome. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 80 | 67% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
18 |
15% |
Disease patterns and progression | 8 | 7% |
Patient case studies | 7 | 6% |
Other research | 3 | 3% |
Clinical study results | 2 | 2% |
Testing and diagnosis research | 1 | 1% |
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Çetinkaya D (2026). [PMID: 41703727](https://pubmed.ncbi.nlm.nih.gov/41703727/). *Am J Med Genet A*. [Basic Science / Preclinical]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Clinical Trial Publication]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Howard MC (2026). [PMID: 41774788](https://pubmed.ncbi.nlm.nih.gov/41774788/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Borthakur K (2026). [PMID: 42185514](https://pubmed.ncbi.nlm.nih.gov/42185514/). *Prenat Diagn*. [Case Report / Case Series]
Shabshin G (2025). [PMID: 40261331](https://pubmed.ncbi.nlm.nih.gov/40261331/). *Orthopadie (Heidelb)*. [Review / Meta-Analysis]
Krusche M (2025). [PMID: 40960635](https://pubmed.ncbi.nlm.nih.gov/40960635/). *Z Rheumatol*. [Review / Meta-Analysis]
AI-curated news mentioning 3MC syndrome
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.