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brachyolmia, Maroteaux type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachyolmia, Maroteaux type

MONDO:0013360

Also known as:brachyolmia type 2BCYM2

Overview

Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.

GeneticsAutosomal recessive

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Short stature and Platyspondyly.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature

Explore clinical features

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 brachyolmia, Maroteaux type.

5 publications have been identified in PubMed for brachyolmia, Maroteaux type. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).

Recent Publications

Tsujioka Y (2026). [PMID: 42094029](https://pubmed.ncbi.nlm.nih.gov/42094029/). *Mol Syndromol*. [Review / Meta-Analysis]
Güneş N (2025). [PMID: 39825918](https://pubmed.ncbi.nlm.nih.gov/39825918/). *Pediatr Radiol*. [Epidemiology / Natural History]
Long W (2025). [PMID: 40927400](https://pubmed.ncbi.nlm.nih.gov/40927400/). *Clin Case Rep*. [Case Report / Case Series]
Biancotto G (2024). [PMID: 38768012](https://pubmed.ncbi.nlm.nih.gov/38768012/). *Prenat Diagn*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613678

Orphanet

European rare disease database

Orphanet:93302

GARD

Genetic and Rare Diseases Info Center

GARD:16816

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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brachyolmia, Maroteaux type

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team