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microcephaly-glomerulonephritis-marfanoid habitus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-glomerulonephritis-marfanoid habitus syndrome

MONDO:0009565

Also known as:MARFANOID habitus with microcephaly and glomerulonephritismicrocephaly glomerulonephritis Marfanoid habitus

Overview

This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.

Diagnosis

Biomarker and diagnostic research for microcephaly-glomerulonephritis-marfanoid habitus 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 microcephaly-glomerulonephritis-marfanoid habitus syndrome.

44 publications have been identified in PubMed for microcephaly-glomerulonephritis-marfanoid habitus syndrome. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (15%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	20	50%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:248760

Orphanet

European rare disease database

Orphanet:2172

GARD

Genetic and Rare Diseases Info Center

GARD:3615

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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microcephaly-glomerulonephritis-marfanoid habitus syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications