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lethal omphalocele-cleft palate syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal omphalocele-cleft palate syndrome

MONDO:0009780

Also known as:Czeizel syndromecleft palate-omphalocele syndrome, lethalomphalocele cleft palate syndrome lethal

Overview

Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.

GeneticsAutosomal recessive

ResearchLimited published research (4 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 common findings: Bifid uterus, Cleft soft palate, Retrognathia, and Unilateral cleft lip. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Cleft palate, Cleft soft palate, Unilateral cleft lip

Diagnosis

Biomarker and diagnostic research for lethal omphalocele-cleft palate syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 lethal omphalocele-cleft palate syndrome.

5 publications have been identified in PubMed for lethal omphalocele-cleft palate syndrome. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (25%), and Case Report / Case Series (25%).

Recent Publications

Kutlu Dilek TU (2026). [PMID: 41459995](https://pubmed.ncbi.nlm.nih.gov/41459995/). *J Turk Ger Gynecol Assoc*. [Diagnostic / Biomarker]
Wagner SA (2026). [PMID: 41748205](https://pubmed.ncbi.nlm.nih.gov/41748205/). *Neonatal Netw*. [Case Report / Case Series]
Brinkmeier ML (2025). [PMID: 39975280](https://pubmed.ncbi.nlm.nih.gov/39975280/). *bioRxiv*. [Basic Science / Preclinical]
Brinkmeier ML (2025). [PMID: 40044116](https://pubmed.ncbi.nlm.nih.gov/40044116/). *Hum Mol Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:258320

Orphanet

European rare disease database

Orphanet:2736

GARD

Genetic and Rare Diseases Info Center

GARD:4079

Questions for Your Care Team

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lethal omphalocele-cleft palate syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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