MCID: BRD027
MIFTS: 7

Braddock Jones Superneau Syndrome

Categories: Rare diseases

Aliases & Classifications for Braddock Jones Superneau Syndrome

MalaCards integrated aliases for Braddock Jones Superneau Syndrome:

Name: Braddock Jones Superneau Syndrome 52
Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus 52
Sagittal Craniosynostosis, Dandy-Walker Malformation and Hydrocephalus 52
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome 52
Braddock-Jones-Superneau Syndrome 52

Classifications:



Summaries for Braddock Jones Superneau Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1538 Definition Craniosynostosis , Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), 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 . Visit the Orphanet disease page for more resources.

MalaCards based summary : Braddock Jones Superneau Syndrome, also known as dandy-walker malformation with sagittal craniosynostosis and hydrocephalus, is related to hydrocephalus, autosomal dominant and dandy-walker syndrome.

Related Diseases for Braddock Jones Superneau Syndrome

Diseases related to Braddock Jones Superneau Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrocephalus, autosomal dominant 11.7
2 dandy-walker syndrome 10.4
3 hydrocephalus 10.4
4 craniosynostosis 10.4

Symptoms & Phenotypes for Braddock Jones Superneau Syndrome

Drugs & Therapeutics for Braddock Jones Superneau Syndrome

Search Clinical Trials , NIH Clinical Center for Braddock Jones Superneau Syndrome

Genetic Tests for Braddock Jones Superneau Syndrome

Anatomical Context for Braddock Jones Superneau Syndrome

Publications for Braddock Jones Superneau Syndrome

Articles related to Braddock Jones Superneau Syndrome:

# Title Authors PMID Year
1
Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. 61
8266990 1993

Variations for Braddock Jones Superneau Syndrome

Expression for Braddock Jones Superneau Syndrome

Search GEO for disease gene expression data for Braddock Jones Superneau Syndrome.

Pathways for Braddock Jones Superneau Syndrome

GO Terms for Braddock Jones Superneau Syndrome

Sources for Braddock Jones Superneau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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