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Features include: Cloudy or opaque cornea (corneal opacity), Long philtrum, Anteverted nares, and Flat face and 20 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Cloudy or opaque cornea (corneal opacity), Keratitis, Conjunctivitis |
Biomarker and diagnostic research for mandibulofacial dysostosis-macroblepharon-macrostomia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for mandibulofacial dysostosis-macroblepharon-macrostomia syndrome.
149 publications have been identified in PubMed for mandibulofacial dysostosis-macroblepharon-macrostomia syndrome. Kisho has analyzed 117 by research type. Research spans Review / Meta-Analysis (56%), Basic Science / Preclinical (20%), and Case Report / Case Series (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 65 | 56% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
3 |
Flat face, Round face, Mandibulofacial dysostosis |
Ears | 1 | Recurrent otitis media |
Laboratory research |
23 |
20% |
Patient case studies | 18 | 15% |
Disease patterns and progression | 7 | 6% |
Testing and diagnosis research | 2 | 2% |
Clinical study results | 2 | 2% |
Van Roey V (2026). [PMID: 42095487](https://pubmed.ncbi.nlm.nih.gov/42095487/). *J Plast Surg Hand Surg*. [Review / Meta-Analysis]
Ferraro F (2026). [PMID: 41017149](https://pubmed.ncbi.nlm.nih.gov/41017149/). *HGG Adv*. [Case Report / Case Series]
Guo Q (2026). [PMID: 41949491](https://pubmed.ncbi.nlm.nih.gov/41949491/). *Acta Otolaryngol*. [Review / Meta-Analysis]
Qin J (2026). [PMID: 41667381](https://pubmed.ncbi.nlm.nih.gov/41667381/). *WIREs Mech Dis*. [Review / Meta-Analysis]
Kawakami K (2026). [PMID: 41542823](https://pubmed.ncbi.nlm.nih.gov/41542823/). *FEBS Open Bio*. [Basic Science / Preclinical]
Kucińska A (2026). [PMID: 41923825](https://pubmed.ncbi.nlm.nih.gov/41923825/). *Appl Clin Genet*. [Case Report / Case Series]
Aubert Mucca M (2026). [PMID: 41339098](https://pubmed.ncbi.nlm.nih.gov/41339098/). *Clin Genet*. [Epidemiology / Natural History]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Sng JHT (2026). [PMID: 41817050](https://pubmed.ncbi.nlm.nih.gov/41817050/). *Orthod Craniofac Res*. [Diagnostic / Biomarker]
Camarillo-Benitez S (2026). [PMID: 41752027](https://pubmed.ncbi.nlm.nih.gov/41752027/). *Int J Mol Sci*. [Basic Science / Preclinical]