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isolated cloverleaf skull syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated cloverleaf skull syndrome

MONDO:0007861

Also known as:KLEEBLATTSCHAEDELKleeblattschadelKleeblattschaedel deformity syndrome

Overview

Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

GeneticsSporadic (not inherited), Autosomal dominant

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: Recurrent corneal erosions, Craniosynostosis, Hydrocephalus, and Proptosis and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	1	Recurrent corneal erosions
Head and neck

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 isolated cloverleaf skull syndrome.

3 publications have been identified in PubMed for isolated cloverleaf skull syndrome. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Guarnizo Capera AP (2024). [PMID: 36720799](https://pubmed.ncbi.nlm.nih.gov/36720799/). *Acta neurologica Belgica*. [Case Report / Case Series]
Chaisrisawadisuk S (2024). [PMID: 38324062](https://pubmed.ncbi.nlm.nih.gov/38324062/). *Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery*. [Case Report / Case Series]
Ferriastuti W (2024). [PMID: 39777176](https://pubmed.ncbi.nlm.nih.gov/39777176/). *Surgical neurology international*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:148800

Orphanet

European rare disease database

Orphanet:2343

GARD

Genetic and Rare Diseases Info Center

GARD:3115

Questions for Your Care Team

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isolated cloverleaf skull syndrome

Overview

Clinical Presentation

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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