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

microspherophakia-metaphyseal dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microspherophakia-metaphyseal dysplasia syndrome

MONDO:0007998

Also known as:Verloes-Van Maldergem-de Marneffe syndromeVerloes Van Maldergem Marneffe syndromedominantly inherited bone dysplasia with severe eye involvement

Overview

Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.

ResearchLimited published research (4 articles)

Diagnosis

Biomarker and diagnostic research for microspherophakia-metaphyseal dysplasia syndrome has been reported in the published literature.

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 microspherophakia-metaphyseal dysplasia syndrome.

4 publications have been identified in PubMed for microspherophakia-metaphyseal dysplasia syndrome. Research spans Other (25%), Diagnostic / Biomarker (25%), and Case Report / Case Series (25%).

Recent Publications

Debonnaire P (2026). [PMID: 41906617](https://pubmed.ncbi.nlm.nih.gov/41906617/). *JACC Adv*. [Diagnostic / Biomarker]
Mezher MA (2025). [PMID: 39976920](https://pubmed.ncbi.nlm.nih.gov/39976920/). *Cell Mol Biol (Noisy-le-grand)*. [Basic Science / Preclinical]
Lebrun L (2025). [PMID: 40253843](https://pubmed.ncbi.nlm.nih.gov/40253843/). *Cancer Radiother*. [Case Report / Case Series]
Misplon S (2024). [PMID: 38915071](https://pubmed.ncbi.nlm.nih.gov/38915071/). *Arch Public Health*. [Other]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:157151

Orphanet

European rare disease database

Orphanet:2551

GARD

Genetic and Rare Diseases Info Center

GARD:5481

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

microspherophakia-metaphyseal dysplasia syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team