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

Rare Disease

osteomesopyknosis

MONDO:0008155

Also known as:axial osteosclerosis

Overview

Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.

GeneticsAutosomal dominant

ResearchLimited published research (2 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: Increased bone density (increased bone mineral density); and common findings: Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis), Abnormal form of the vertebral bodies, and Sclerotic vertebral body. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Increased bone density (increased bone mineral density), Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis)

Prognosis

Phenotype severity distribution: 1 very common feature, 4 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 osteomesopyknosis.

2 publications have been identified in PubMed for osteomesopyknosis. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Riancho JA (2025). [PMID: 40087156](https://pubmed.ncbi.nlm.nih.gov/40087156/). *Calcified tissue international*. [Review / Meta-Analysis]
Fernandez-Luna JL (2024). [PMID: 38803233](https://pubmed.ncbi.nlm.nih.gov/38803233/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:166450

Orphanet

European rare disease database

Orphanet:2777

GARD

Genetic and Rare Diseases Info Center

GARD:391

Questions for Your Care Team

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osteomesopyknosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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