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otofaciocervical syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

otofaciocervical syndrome 2

MONDO:0014254

Also known as:PAX1 otofaciocervical syndromeotofaciocervical syndrome caused by mutation in PAX1otofaciocervical syndrome type 2

Overview

Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.

GeneticsAutosomal recessive · PAX1 (chr 20)

Patient Orgs1 organizations · FCS Foundation

ResearchLimited published research (3 articles)

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: Carious teeth, Preauricular pit, Microretrognathia, and Cupped ear and others; and common findings: Moderate intellectual disability, Wide nasal bridge, Scapular winging, and Global developmental delay and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Moderate intellectual disability, Global developmental delay

Genetic Landscape

PAX1 function has not been fully characterized.

Otofaciocervical syndrome 2 is caused by mutations in the PAX1 gene on chromosome 20.

Diagnosis

Genetic testing for PAX1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 7 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 otofaciocervical syndrome 2.

3 publications have been identified in PubMed for otofaciocervical syndrome 2. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Gomez VL (2026). [PMID: 41751498](https://pubmed.ncbi.nlm.nih.gov/41751498/). *Curr Issues Mol Biol*. [Review / Meta-Analysis]
Chen Y (2025). [PMID: 40850800](https://pubmed.ncbi.nlm.nih.gov/40850800/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Basic Science / Preclinical]
Miao D (2024). [PMID: 38664733](https://pubmed.ncbi.nlm.nih.gov/38664733/). *Cell Commun Signal*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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FCS FoundationPrimary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615560

GARD

Genetic and Rare Diseases Info Center

GARD:16503

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with FCS Foundation and other patient organizations for support?

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otofaciocervical syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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