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

mesomelic dwarfism, Nievergelt type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mesomelic dwarfism, Nievergelt type

MONDO:0008098

Also known as:Nievergelt syndromemesomelic dwarfism Nievergelt typemesomelic dysplasia, Nievergelt type

Overview

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Pes cavus, Short stature, Genu valgum, and Metatarsus adductus. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	2	Short stature, Mesomelic short stature

Prognosis

Phenotype severity distribution: 4 always present features.

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 mesomelic dwarfism, Nievergelt type.

1 publication has been identified in PubMed for mesomelic dwarfism, Nievergelt type. Research spans Case Report / Case Series (100%).

Recent Publications

Kantiwal P (2024). [PMID: 39035397](https://pubmed.ncbi.nlm.nih.gov/39035397/). *J Orthop Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:163400

Orphanet

European rare disease database

Orphanet:2633

GARD

Genetic and Rare Diseases Info Center

GARD:3554

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

mesomelic dwarfism, Nievergelt type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features