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autosomal recessive brachyolmia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive brachyolmia

MONDO:0018662

Also known as:brachyolmia, Hobaek/Toledo typebrachyolmia, autosomal recessive

Overview

Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.

ResearchLimited published research (1 article)

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 autosomal recessive brachyolmia.

1 publication has been identified in PubMed for autosomal recessive brachyolmia. Research spans Review / Meta-Analysis (100%).

Recent Publications

Tsujioka Y (2026). [PMID: 42094029](https://pubmed.ncbi.nlm.nih.gov/42094029/). *Mol Syndromol*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:448242

GARD

Genetic and Rare Diseases Info Center

GARD:13171

Questions for Your Care Team

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autosomal recessive brachyolmia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team