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Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for macrosomia-microphthalmia-cleft palate syndrome.
300 publications have been identified in PubMed for macrosomia-microphthalmia-cleft palate syndrome. Kisho has analyzed 49 by research type. Research spans Review / Meta-Analysis (31%), Basic Science / Preclinical (31%), and Epidemiology / Natural History (22%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 15 | 31% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
15 |
31% |
Disease patterns and progression | 11 | 22% |
Patient case studies | 6 | 12% |
Clinical study results | 2 | 4% |
Puente Espel J (2026). [PMID: 34033348](https://pubmed.ncbi.nlm.nih.gov/34033348/). *Unknown Journal*. [Clinical Trial Publication]
Evangelista JR (2026). [PMID: 41839467](https://pubmed.ncbi.nlm.nih.gov/41839467/). *Biochem Biophys Res Commun*. [Review / Meta-Analysis]
Curtis SW (2025). [PMID: 41172132](https://pubmed.ncbi.nlm.nih.gov/41172132/). *Hum Mol Genet*. [Basic Science / Preclinical]
Zhu KJ (2025). [PMID: 40167091](https://pubmed.ncbi.nlm.nih.gov/40167091/). *Ann Plast Surg*. [Epidemiology / Natural History]
Loughman L (2025). [PMID: 40028877](https://pubmed.ncbi.nlm.nih.gov/40028877/). *Am J Med Genet A*. [Case Report / Case Series]
Robinson KR (2025). [PMID: 40093200](https://pubmed.ncbi.nlm.nih.gov/40093200/). *medRxiv*. [Basic Science / Preclinical]
Benard EL (2025). [PMID: 39904689](https://pubmed.ncbi.nlm.nih.gov/39904689/). *Differentiation*. [Review / Meta-Analysis]
Li X (2025). [PMID: 40730884](https://pubmed.ncbi.nlm.nih.gov/40730884/). *Commun Biol*. [Clinical Trial Publication]
Funato N (2025). [PMID: 40353495](https://pubmed.ncbi.nlm.nih.gov/40353495/). *J Dent Res*. [Epidemiology / Natural History]
Copelli MM (2025). [PMID: 39855980](https://pubmed.ncbi.nlm.nih.gov/39855980/). *J Craniomaxillofac Surg*. [Epidemiology / Natural History]