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fibrochondrogenesis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibrochondrogenesis 1

MONDO:0009226

Also known as:COL11A1 fibrochondrogenesisfibrochondrogenesis caused by mutation in COL11A1fibrochondrogenesis type 1

Overview

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.

GeneticsAutosomal recessive · COL11A1 (chr 1)

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: Fibular hypoplasia, Hypoplastic scapulae, Short foot, and Megalocornea and 43 more.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Short foot, Hypoplastic fingernail, Hypoplastic toenails
Bones and joints

Genetic Landscape

COL11A1 function has not been fully characterized.

Fibrochondrogenesis 1 is associated with mutations in the COL11A1 gene on chromosome 1.

Diagnosis

Genetic testing for COL11A1 is available. Testing is considered confirmatory for diagnosis.

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 1.

3 publications have been identified in PubMed for fibrochondrogenesis 1. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Kwan KYC (2025). [PMID: 40428164](https://pubmed.ncbi.nlm.nih.gov/40428164/). *Bioengineering (Basel, Switzerland)*. [Basic Science / Preclinical]
Peschaut T (2025). [PMID: 39981533](https://pubmed.ncbi.nlm.nih.gov/39981533/). *Case reports in ophthalmology*. [Case Report / Case Series]
Wu J (2024). [PMID: 38684309](https://pubmed.ncbi.nlm.nih.gov/38684309/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:228520

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?

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fibrochondrogenesis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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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