Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

multiple epiphyseal dysplasia, Lowry type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple epiphyseal dysplasia, Lowry type

MONDO:0011109

Also known as:multiple epiphyseal dysplasia with Robin phenotypeepiphyseal dysplasia, multiple, with Robin phenotype

Overview

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.

ResearchLimited published research (3 articles)

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 multiple epiphyseal dysplasia, Lowry type.

4 publications have been identified in PubMed for multiple epiphyseal dysplasia, Lowry type. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Norppa AJ (2025). [PMID: 39761998](https://pubmed.ncbi.nlm.nih.gov/39761998/). *RNA*. [Review / Meta-Analysis]
Wang H (2025). [PMID: 40660273](https://pubmed.ncbi.nlm.nih.gov/40660273/). *Ital J Pediatr*. [Case Report / Case Series]
Muehlebach ME (2025). [PMID: 40877255](https://pubmed.ncbi.nlm.nih.gov/40877255/). *Bone Res*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601560

Orphanet

European rare disease database

Orphanet:166016

GARD

Genetic and Rare Diseases Info Center

GARD:17013

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

multiple epiphyseal dysplasia, Lowry type

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team