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craniofacial microsomia 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniofacial microsomia 1

MONDO:0958175

Overview

GeneticsAutosomal dominant · SF3B2 (chr 11)

OnsetCONGENITAL

ResearchLimited published research (1 article)

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 very common findings: Micrognathia; and common findings: Mild global developmental delay, Cervical ribs, Limbal dermoid, and Transverse facial cleft and others. 53 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	7	Cleft palate, Transverse facial cleft, Hypoplasia of the maxilla

Genetic Landscape

SF3B2 function has not been fully characterized.

Craniofacial microsomia 1 is associated with mutations in the SF3B2 gene on chromosome 11.

Diagnosis

Genetic testing for SF3B2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 8 common features.

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 1.

1 publication has been identified in PubMed for craniofacial microsomia 1. Research spans Basic Science / Preclinical (100%).

Recent Publications

Boonin P (2025). [PMID: 40136557](https://pubmed.ncbi.nlm.nih.gov/40136557/). *Biology (Basel)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:164210

Questions for Your Care Team

→Should I pursue genetic testing for SF3B2, 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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craniofacial microsomia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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