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craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

MONDO:0007401

Also known as:Braddock-Jones-Superneau syndromeDandy-Walker malformation with sagittal craniosynostosis and hydrocephalusHDCPH1

Overview

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.

GeneticsAutosomal dominant

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: Hydrocephalus, Dandy-Walker malformation, Dolichocephaly, and Hypertelorism and others; and common findings: Strabismus and Intellectual disability. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Sagittal craniosynostosis, Orbital craniosynostosis

Diagnosis

Biomarker and diagnostic research for craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 2 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 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome.

202 publications have been identified in PubMed for craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome. Research spans Review / Meta-Analysis (62%), Basic Science / Preclinical (15%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Research summaries	115	62%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:123155

Orphanet

European rare disease database

Orphanet:1538

GARD

Genetic and Rare Diseases Info Center

GARD:998

Questions for Your Care Team

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Kisho

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Overview

Clinical Presentation

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