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craniosynostosis 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis 6

MONDO:0014705

Also known as:ZIC1 craniosynostosiscraniosynostosis caused by mutation in ZIC1craniosynostosis type 6

Overview

Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.

GeneticsAutosomal dominant · ZIC1 (chr 3)

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 always present findings: Craniosynostosis; and common findings: Strabismus, Low muscle tone (hypotonia), Bicoronal synostosis, and Microcephaly and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Strabismus, Ptosis

Genetic Landscape

ZIC1 function has not been fully characterized.

Craniosynostosis 6 is caused by mutations in the ZIC1 gene on chromosome 3.

Diagnosis

Genetic testing for ZIC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for craniosynostosis 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 6 common features.

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 craniosynostosis 6.

211 publications have been identified in PubMed for craniosynostosis 6. Kisho has analyzed 79 by research type. Research spans Epidemiology / Natural History (27%), Review / Meta-Analysis (23%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Disease patterns and progression	21	27%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616602

Orphanet

European rare disease database

Orphanet:672985

GARD

Genetic and Rare Diseases Info Center

GARD:18048

Questions for Your Care Team

→Should I pursue genetic testing for ZIC1, and what would the results mean for my family?
→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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craniosynostosis 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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craniosynostosis 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications