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maternal 14q32.2 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maternal 14q32.2 microdeletion syndrome

MONDO:0016781

Also known as:maternal del(14)(q32.2)maternal monosomy 14q32.2

Overview

ResearchLimited published research (3 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: Global developmental delay, Polyhydramnios, Thoracic hypoplasia, and Coat hanger sign of ribs and others; and common findings: Inguinal hernia, Flexion contracture, Joint hypermobility, and Umbilical hernia and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	4	Flexion contracture, Wrist flexion contracture, Low muscle tone (hypotonia)

Prognosis

Phenotype severity distribution: 5 very common features, 8 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.

No clinical trials have been registered for maternal 14q32.2 microdeletion syndrome.

3 publications have been identified in PubMed for maternal 14q32.2 microdeletion syndrome. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Vedovato-Dos-Santos JH (2025). [PMID: 40033098](https://pubmed.ncbi.nlm.nih.gov/40033098/). *Eur J Hum Genet*. [Review / Meta-Analysis]
Black J (2025). [PMID: 40110997](https://pubmed.ncbi.nlm.nih.gov/40110997/). *Am J Med Genet A*. [Case Report / Case Series]
Baena N (2024). [PMID: 38715103](https://pubmed.ncbi.nlm.nih.gov/38715103/). *Clin Epigenetics*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 2:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254528

GARD

Genetic and Rare Diseases Info Center

GARD:17221

Questions for Your Care Team

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maternal 14q32.2 microdeletion syndrome

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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