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

Rare Disease

fibrochondrogenesis

MONDO:0016068

Overview

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

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 very common findings: Wide anterior fontanel, Round face, Short neck, and Proptosis and others; and common findings: Narrow mouth, Cleft palate, Hearing abnormality, and Low-set ears and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Round face

Prognosis

Phenotype severity distribution: 14 very common features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

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

Recent Publications

Yuan W (2026). [PMID: 41665948](https://pubmed.ncbi.nlm.nih.gov/41665948/). *JCI Insight*. [Basic Science / Preclinical]
Kwan KYC (2025). [PMID: 40428164](https://pubmed.ncbi.nlm.nih.gov/40428164/). *Bioengineering (Basel)*. [Basic Science / Preclinical]
Li H (2025). [PMID: 40060143](https://pubmed.ncbi.nlm.nih.gov/40060143/). *Bioact Mater*. [Basic Science / Preclinical]
Peschaut T (2025). [PMID: 39981533](https://pubmed.ncbi.nlm.nih.gov/39981533/). *Case Rep Ophthalmol*. [Case Report / Case Series]
Ai L (2025). [PMID: 40623448](https://pubmed.ncbi.nlm.nih.gov/40623448/). *Osteoarthritis Cartilage*. [Basic Science / Preclinical]
Wu J (2024). [PMID: 38684309](https://pubmed.ncbi.nlm.nih.gov/38684309/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2021

GARD

Genetic and Rare Diseases Info Center

GARD:2321

Questions for Your Care Team

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fibrochondrogenesis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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