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extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

MONDO:0007588

Also known as:Char-Douglas-Dungan syndromeextrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly

Overview

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.

Diagnosis

Biomarker and diagnostic research for extrasystoles-short stature-hyperpigmentation-microcephaly 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 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome.

229 publications have been identified in PubMed for extrasystoles-short stature-hyperpigmentation-microcephaly syndrome. Research spans Review / Meta-Analysis (46%), Epidemiology / Natural History (15%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	106	46%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:133750

Orphanet

European rare disease database

Orphanet:1964

GARD

Genetic and Rare Diseases Info Center

GARD:2213

Questions for Your Care Team

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extrasystoles-short stature-hyperpigmentation-microcephaly 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

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