craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Summary

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (MONDO:0007401) is a disease. A subtype of hydrocephalus — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 11

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		4	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

11 HPO clinical features (Orphanet curated; top 11 by frequency):

HPO ID	Term	Frequency
HP:0000238	Hydrocephalus	Very frequent (80-99%)
HP:0000268	Dolichocephaly	Very frequent (80-99%)
HP:0000316	Hypertelorism	Very frequent (80-99%)
HP:0000347	Micrognathia	Very frequent (80-99%)
HP:0000648	Optic atrophy	Very frequent (80-99%)
HP:0001305	Dandy-Walker malformation	Very frequent (80-99%)
HP:0001321	Cerebellar hypoplasia	Very frequent (80-99%)
HP:0002007	Frontal bossing	Very frequent (80-99%)
HP:0005472	Orbital craniosynostosis	Very frequent (80-99%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Mondo ID	MONDO:0007401
MeSH	C563973
OMIM	123155
Orphanet	1538
SNOMED CT	720813007
UMLS	C1838347
MedGen	325006
GARD	0000998
Is cancer (heuristic)	no

Also known as: Braddock Jones Superneau syndrome · Braddock-Jones-Superneau syndrome · craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome · Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus · HDCPH1 · hydrocephalus, autosomal dominant · sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus

Data availability: 1 cell line.

Disease family

This is a subtype of hydrocephalus. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › hydrocephalus › craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Related subtypes (6): obstructive hydrocephalus, communicating hydrocephalus, congenital hydrocephalus, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, baker Vinters syndrome, palmer pagon syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.