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craniofacial microsomia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniofacial microsomia 2

MONDO:0958194

Overview

GeneticsAutosomal dominant · FOXI3 (chr 2)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Microtia; and very common findings: Microtia, third degree. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	1	Submucous cleft palate
Skin

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FOXI3 encodes forkhead box I3 (420 aa). Transcription factor required for pharyngeal arch development, which is involved in hair, ear, jaw and dental development. May act as a pioneer transcription factor during pharyngeal arch development. Highest expression in Testis (0.7 TPM) and Pituitary (0.1 TPM).

Craniofacial microsomia 2 is associated with mutations in the FOXI3 gene on chromosome 2.

FOXI3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FOXI3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for craniofacial microsomia 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for craniofacial microsomia 2.

61 publications have been identified in PubMed for craniofacial microsomia 2. Research spans Basic Science / Preclinical (25%), Case Report / Case Series (23%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Laboratory research	15	25%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620444

Questions for Your Care Team

→Should I pursue genetic testing for FOXI3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

craniofacial microsomia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

craniofacial microsomia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications