Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

fibrochondrogenesis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibrochondrogenesis 2

MONDO:0013795

Also known as:COL11A2 fibrochondrogenesisfibrochondrogenesis caused by mutation in COL11A2fibrochondrogenesis type 2

Overview

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.

GeneticsAutosomal recessive, Autosomal dominant · COL11A2 (chr 6)

ResearchLimited published research (6 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: Short long bone, Metaphyseal widening, Anteverted nares, and Thoracic hypoplasia and others; and common findings: Metaphyseal cupping and Micrognathia.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Short long bone, Hypoplastic pubic bone

Explore clinical features

Genetic Landscape

COL11A2 function has not been fully characterized.

Fibrochondrogenesis 2 is associated with mutations in the COL11A2 gene on chromosome 6.

Diagnosis

Genetic testing for COL11A2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present features, 2 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 fibrochondrogenesis 2.

6 publications have been identified in PubMed for fibrochondrogenesis 2. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Recent Publications

Yoshino S (2026). [PMID: 41912496](https://pubmed.ncbi.nlm.nih.gov/41912496/). *Bone Res*. [Review / Meta-Analysis]
Peschaut T (2025). [PMID: 39981533](https://pubmed.ncbi.nlm.nih.gov/39981533/). *Case Rep Ophthalmol*. [Case Report / Case Series]
Li H (2025). [PMID: 40060143](https://pubmed.ncbi.nlm.nih.gov/40060143/). *Bioact Mater*. [Basic Science / Preclinical]
Ai L (2025). [PMID: 40623448](https://pubmed.ncbi.nlm.nih.gov/40623448/). *Osteoarthritis Cartilage*. [Basic Science / Preclinical]
Niu J (2025). [PMID: 40554768](https://pubmed.ncbi.nlm.nih.gov/40554768/). *Development*. [Basic Science / Preclinical]
Kwan KYC (2025). [PMID: 40428164](https://pubmed.ncbi.nlm.nih.gov/40428164/). *Bioengineering (Basel)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614524

GARD

Genetic and Rare Diseases Info Center

GARD:15815

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?
→Is there a patient registry I should consider joining?

← Back to All Diseases

fibrochondrogenesis 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team