CAMS2
MCID: WYB002
MIFTS: 30

Wyburn-Mason Syndrome (CAMS2)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Wyburn-Mason Syndrome

MalaCards integrated aliases for Wyburn-Mason Syndrome:

Name: Wyburn-Mason Syndrome 52 58
Cerebrofacial Arteriovenous Metameric Syndrome Type 2 52 58
Cams2 52 58
Arteriovenous Aneurysm of Mid-Brain and Retina, Facial Nevi and Mental Changes 52
Bonnet-Dechaume-Blanc Syndrome 58
Bonnet-Decaume-Blanc Syndrome 52
Wyburn Mason Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
wyburn-mason syndrome
Inheritance: Not applicable; Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Wyburn-Mason Syndrome

NIH Rare Diseases : 52 Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital ) and the cause is unknown. Individuals with this condition may have additional AVMs in other parts of the body, particularly the face. The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs. Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures , or partial paralysis (hemiparesis ). Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.

MalaCards based summary : Wyburn-Mason Syndrome, also known as cerebrofacial arteriovenous metameric syndrome type 2, is related to arteriovenous malformation and hemangioma. Affiliated tissues include brain, retina and eye, and related phenotypes are vascular skin abnormality and peripheral arteriovenous fistula

Wikipedia : 74 Bonnet-Dechaume-Blanc syndrome, also known as Wyburn-Mason syndrome, is a rare congenital disorder... more...

Related Diseases for Wyburn-Mason Syndrome

Graphical network of the top 20 diseases related to Wyburn-Mason Syndrome:



Diseases related to Wyburn-Mason Syndrome

Symptoms & Phenotypes for Wyburn-Mason Syndrome

Human phenotypes related to Wyburn-Mason Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vascular skin abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0011276
2 peripheral arteriovenous fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0100784
3 retinal vascular malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007797
4 dilatation 31 hallmark (90%) HP:0002617
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
9 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
10 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
11 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
12 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
13 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
14 abnormality of eye movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0000496
15 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
16 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
17 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
18 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
19 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
20 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
21 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
22 subarachnoid hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002138
23 cerebral hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0001342
24 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
25 loss of consciousness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007185
26 arteriovenous malformation 58 Very frequent (99-80%)
27 abnormality of the cerebral vasculature 58 Very frequent (99-80%)
28 aneurysm 58 Very frequent (99-80%)

Drugs & Therapeutics for Wyburn-Mason Syndrome

Search Clinical Trials , NIH Clinical Center for Wyburn-Mason Syndrome

Genetic Tests for Wyburn-Mason Syndrome

Anatomical Context for Wyburn-Mason Syndrome

MalaCards organs/tissues related to Wyburn-Mason Syndrome:

40
Brain, Retina, Eye, Skin, Bone, Kidney, Thyroid

Publications for Wyburn-Mason Syndrome

Articles related to Wyburn-Mason Syndrome:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Dilated and tortuous retinal vessels as a sign of Cantu syndrome. 61
31584310 2019
2
Cerebrofacial Arteriovenous Metameric Syndrome Type 2. 61
31593048 2019
3
[Central venous occlusion in Wyburn-Mason syndrome]. 61
31209569 2019
4
Management of retinal artery macroaneurysm exudation in Wyburn-Mason syndrome with intravitreal ranibizumab. 61
30900598 2019
5
Familial Cavernous Hemangioma. 61
30893269 2019
6
Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment. 61
30451208 2018
7
Image Gallery: Wyburn-Mason syndrome with a chronic wound. 61
30222886 2018
8
RETINAL ARTERIOVENOUS MALFORMATION. 61
27533644 2017
9
No Perception of Light in a Child With Wyburn-Mason Syndrome. 61
27637023 2016
10
Wyburn Mason Syndrome: A Rare Phacomatosis. 61
27450821 2016
11
Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome. 61
27112169 2016
12
Wyburn-Mason Syndrome. 61
26707436 2016
13
Mosaic Neurocutaneous Disorders and Their Causes. 61
26706010 2015
14
Hemispheric Retinal Arteriovenous Anastomoses: (Wyburn-Mason Syndrome). 61
26562512 2015
15
Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome. 61
25906291 2015
16
Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion. 61
26247458 2015
17
Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation. 61
25828823 2015
18
Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome. 61
24171831 2015
19
Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report. 61
25884956 2015
20
PHACE(S) syndrome. 61
26564079 2015
21
Wyburn-Mason syndrome. 61
24875256 2014
22
Duane type I retraction syndrome associated with Wyburn-Mason syndrome. 61
22697299 2013
23
Racemose hemangioma type 2: the first case report from the Middle East. 61
23053770 2013
24
Teaching NeuroImages: Atypical Wyburn-Mason syndrome. 61
22946119 2012
25
Junctional visual field loss in a case of Wyburn-Mason syndrome. 61
21613961 2012
26
A twisted mess. 61
21621808 2012
27
Spontaneous regression in a case of racemose haemangioma archer's type 2. 61
25390417 2011
28
Spontaneous development of macular ischemia in a case of racemose hemangioma. 61
21792280 2011
29
Wyburn-Mason syndrome. 61
21046099 2010
30
Vascular tumors of the retina and choroid: diagnosis and treatment. 61
20844673 2010
31
Pediatric and inherited neurovascular diseases. 61
20561493 2010
32
Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome). 61
20452891 2010
33
Wyburn-Mason syndrome: a case report. 61
20681369 2010
34
Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report. 61
20464122 2010
35
[Spectral optical coherence tomography analysis of a retinal arteriovenous malformation (Wyburn-Mason syndrome)]. 61
19892434 2009
36
[Retinal racemose hemangioma (Wyburn-Mason syndrome)--a patient ten years follow-up: case report]. 61
19820799 2009
37
Pathogenesis and radiobiology of brain arteriovenous malformations: implications for risk stratification in natural history and posttreatment course. 61
19409010 2009
38
[Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome]. 61
19159963 2009
39
Wyburn-Mason syndrome: a case report. 61
17938868 2008
40
Orbital exenteration after transarterial embolization in a patient with Wyburn-Mason syndrome: pathological findings. 61
18773270 2008
41
Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder. 61
18548189 2008
42
Fibrotic racemose haemangioma of the retina. 61
18454409 2008
43
The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. 61
18501269 2008
44
Wyburn-Mason syndrome. 61
18241621 2008
45
Wyburn-Mason syndrome associated with thyroid arteriovenous malformation: a first case report. 61
17569976 2007
46
A case report of Wyburn-Mason syndrome and review of the literature. 61
17235577 2007
47
[Wyburn-Mason syndrome]. 61
18064958 2007
48
Craniofacial vascular malformations in Wyburn-Mason syndrome. 61
17182351 2006
49
Wyburn-Mason syndrome. 61
16254405 2005
50
Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome. 61
16148629 2005

Variations for Wyburn-Mason Syndrome

Expression for Wyburn-Mason Syndrome

Search GEO for disease gene expression data for Wyburn-Mason Syndrome.

Pathways for Wyburn-Mason Syndrome

GO Terms for Wyburn-Mason Syndrome

Sources for Wyburn-Mason 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
Content
Loading form....