MCID: BRD027
MIFTS: 18

Braddock Jones Superneau Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Braddock Jones Superneau Syndrome

MalaCards integrated aliases for Braddock Jones Superneau Syndrome:

Name: Braddock Jones Superneau Syndrome 19
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome 19 58
Braddock-Jones-Superneau Syndrome 19 58
Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus 19
Sagittal Craniosynostosis, Dandy-Walker Malformation and Hydrocephalus 19

Characteristics:


Inheritance:

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome: Autosomal dominant 58

Prevelance:

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome: Infancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Braddock Jones Superneau Syndrome

GARD: 19 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.

MalaCards based summary: Braddock Jones Superneau Syndrome, also known as craniosynostosis-dandy-walker malformation-hydrocephalus syndrome, is related to hydrocephalus, autosomal dominant and dandy-walker syndrome. Affiliated tissues include bone, and related phenotypes are frontal bossing and hydrocephalus

Orphanet: 58 A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.

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 10.4
2 dandy-walker syndrome 10.4
3 hydrocephalus 10.4
4 craniosynostosis 10.4

Symptoms & Phenotypes for Braddock Jones Superneau Syndrome

Human phenotypes related to Braddock Jones Superneau Syndrome:

58 30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 hydrocephalus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000238
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
4 optic atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000648
5 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
6 dolichocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000268
7 dandy-walker malformation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001305
8 orbital craniosynostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005472
9 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
10 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
11 cerebellar hypoplasia 58 Very frequent (99-80%)

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

Organs/tissues related to Braddock Jones Superneau Syndrome:

MalaCards : Bone

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. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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