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schisis association - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

schisis association

MONDO:0018976

Also known as:Midline development field defects

Overview

The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.

ResearchLimited published research (2 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: Cleft palate, Small for gestational age, Omphalocele, and Premature birth and others; and common findings: Congenital diaphragmatic hernia, Encephalocele, and Spina bifida. 15 total HPO annotations.

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

Prognosis

Phenotype severity distribution: 6 very common features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 schisis association.

2 publications have been identified in PubMed for schisis association. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Klon J (2026). [PMID: 41296048](https://pubmed.ncbi.nlm.nih.gov/41296048/). *Ophthalmologie*. [Case Report / Case Series]
Bartsch S (2025). [PMID: 40558505](https://pubmed.ncbi.nlm.nih.gov/40558505/). *Cells*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:63862

GARD

Genetic and Rare Diseases Info Center

GARD:246

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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schisis association

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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