Biomarker and diagnostic research for craniofacial microsomia has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 12 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

3 clinical trials registered, 2 recruiting. Interventions under study include procedural interventions, other interventions, and biologic therapy. Pipeline includes 1 PHASE1, 2 NA. Research is primarily sponsored by academic and government institutions.

80 publications have been identified in PubMed for craniofacial microsomia. Research spans Basic Science / Preclinical (23%), Case Report / Case Series (20%), and Epidemiology / Natural History (20%).

Recent Publications

• Heggie AA (2026). [PMID: 41991416](https://pubmed.ncbi.nlm.nih.gov/41991416/). *Int J Oral Maxillofac Surg*. [Epidemiology / Natural History]

• Yang R (2026). [PMID: 41867955](https://pubmed.ncbi.nlm.nih.gov/41867955/). *Genes Dis*. [Clinical Trial Publication]

• Li L (2026). [PMID: 41539712](https://pubmed.ncbi.nlm.nih.gov/41539712/). *Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi*. [Review / Meta-Analysis]

• Luo W (2026). [PMID: 41966015](https://pubmed.ncbi.nlm.nih.gov/41966015/). *Ecotoxicol Environ Saf*. [Basic Science / Preclinical]

• Li L (2026). [PMID: 41911566](https://pubmed.ncbi.nlm.nih.gov/41911566/). *J Craniofac Surg*. [Basic Science / Preclinical]

• Young A (2026). [PMID: 32809654](https://pubmed.ncbi.nlm.nih.gov/32809654/). *Unknown Journal*. [Other]

• Li Z (2026). [PMID: 41805077](https://pubmed.ncbi.nlm.nih.gov/41805077/). *J Craniofac Surg*. [Review / Meta-Analysis]

• Li L (2026). [PMID: 42138839](https://pubmed.ncbi.nlm.nih.gov/42138839/). *J Craniofac Surg*. [Diagnostic / Biomarker]

• Ronde EM (2026). [PMID: 42032369](https://pubmed.ncbi.nlm.nih.gov/42032369/). *Eur J Pediatr*. [Epidemiology / Natural History]

• Li C (2026). [PMID: 41951173](https://pubmed.ncbi.nlm.nih.gov/41951173/). *J Stomatol Oral Maxillofac Surg*. [Clinical Trial Publication]