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

metaphyseal anadysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

metaphyseal anadysplasia

MONDO:0015177

Also known as:Maroteaux-Verloes-Stanescu syndromeregressive metaphyseal dysplasiaMAD

Overview

Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.

OnsetINFANTILE

Diagnosis

Biomarker and diagnostic research for metaphyseal anadysplasia 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 metaphyseal anadysplasia.

122 publications have been identified in PubMed for metaphyseal anadysplasia. Research spans Review / Meta-Analysis (66%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Research summaries	80	66%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:309645

Orphanet

European rare disease database

Orphanet:1040

GARD

Genetic and Rare Diseases Info Center

GARD:3562

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

metaphyseal anadysplasia

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications