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microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

MONDO:0035027

Overview

Diagnosis

Biomarker and diagnostic research for microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies 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-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome.

203 publications have been identified in PubMed for microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome. Kisho has analyzed 112 by research type. Research spans Review / Meta-Analysis (34%), Case Report / Case Series (27%), and Basic Science / Preclinical (25%).

Research Type	Count	% of Total
Research summaries	38

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 4:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:521445

GARD

Genetic and Rare Diseases Info Center

GARD:22145

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications