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

Rare Disease

dysosteosclerosis

MONDO:0009138

Overview

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

GeneticsAutosomal recessive

ResearchLimited published research (4 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: Parietal bossing, Sclerotic scapulae, Flared metaphysis, and Hearing loss (hearing impairment) and 41 more.

Organ System	Phenotype Count	Example Features
Bones and joints	7	Broad femoral neck, Mild bone density loss (osteopenia), Hypoplastic vertebral bodies

Prognosis

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 dysosteosclerosis.

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

Recent Publications

Gajewski D (2025). [PMID: 39906258](https://pubmed.ncbi.nlm.nih.gov/39906258/). *JBMR plus*. [Case Report / Case Series]
Rezaie N (2024). [PMID: 38965556](https://pubmed.ncbi.nlm.nih.gov/38965556/). *BMC medical genomics*. [Review / Meta-Analysis]
Dulski J (2024). [PMID: 37839910](https://pubmed.ncbi.nlm.nih.gov/37839910/). *Parkinsonism & related disorders*. [Review / Meta-Analysis]
Beerepoot S (2024). [PMID: 38934054](https://pubmed.ncbi.nlm.nih.gov/38934054/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:224300

Orphanet

European rare disease database

Orphanet:1782

GARD

Genetic and Rare Diseases Info Center

GARD:2012

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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dysosteosclerosis

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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