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fetal cytomegalovirus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal cytomegalovirus syndrome

MONDO:0017409

Also known as:antenatal CMV infectionantenatal cytomegalovirus infectioncongenital Cytomegaloviral infection

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Overview

An infection with the Cytomegalovirus that is present from birth.

Clinical Trials1 registered

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 common findings: Inner ear hearing loss (sensorineural hearing impairment), Intellectual disability, Enlarged spleen (splenomegaly), and Low platelet count (thrombocytopenia) and others; and sometimes findings: Microcephaly, Retinal hemorrhage, Damage to the optic nerve (optic atrophy), and Jaundice and others.

Organ System	Phenotype Count	Example Features
Digestive system	5	Enlarged spleen (splenomegaly), Enlarged liver (hepatomegaly), Elevated circulating hepatic transaminase concentration

Diagnosis

Biomarker and diagnostic research for fetal cytomegalovirus syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 common features.

Estimated prevalence: 1-5 in 10,000 (Uncommon).

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.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

50 publications have been identified in PubMed for fetal cytomegalovirus syndrome. Research spans Epidemiology / Natural History (34%), Review / Meta-Analysis (26%), and Diagnostic / Biomarker (20%).

Research Type	Count	% of Total
Disease patterns and progression	17

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:294

GARD

Genetic and Rare Diseases Info Center

GARD:1480

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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fetal cytomegalovirus syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

fetal cytomegalovirus syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications