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multiple congenital anomalies due to 14q32.2 maternally expressed gene defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

MONDO:0016779

Also known as:Kagami-Ogata syndromeMCA due to 14q32.2 maternally expressed gene defect

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Overview

A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (5 articles)

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 very common findings: Broad philtrum, Full cheeks, Micrognathia, and Anteverted nares and others; and common findings: Pursed lips, Blepharophimosis, Large for gestational age, and Omphalocele and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Intellectual disability, Global developmental delay, Difficulty swallowing (dysphagia)

Prognosis

Phenotype severity distribution: 21 very common features, 12 common 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for multiple congenital anomalies due to 14q32.2 maternally expressed gene defect. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Odagiri S (2025). [PMID: 41246872](https://pubmed.ncbi.nlm.nih.gov/41246872/). *Pediatrics international : official journal of the Japan Pediatric Society*. [Case Report / Case Series]
Ogawa T (2025). [PMID: 39693239](https://pubmed.ncbi.nlm.nih.gov/39693239/). *The Journal of clinical endocrinology and metabolism*. [Case Report / Case Series]
Yang X (2024). [PMID: 39210340](https://pubmed.ncbi.nlm.nih.gov/39210340/). *BMC medical genomics*. [Case Report / Case Series]
Urakawa T (2024). [PMID: 39369220](https://pubmed.ncbi.nlm.nih.gov/39369220/). *Clinical epigenetics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254519

GARD

Genetic and Rare Diseases Info Center

GARD:17219

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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multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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