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 skin, 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 29)
# 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 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
8 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
9 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
10 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
11 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
12 seizure 31 frequent (33%) HP:0001250
13 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
14 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
15 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
16 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
17 abnormality of eye movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0000496
18 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
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 subarachnoid hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002138
22 cerebral hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0001342
23 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
24 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
25 loss of consciousness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007185
26 seizures 58 Frequent (79-30%)
27 arteriovenous malformation 58 Very frequent (99-80%)
28 abnormality of the cerebral vasculature 58 Very frequent (99-80%)
29 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, Skin, Eye, Bone, Kidney, Thyroid

Publications for Wyburn-Mason Syndrome

Articles related to Wyburn-Mason Syndrome:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Familial Cavernous Hemangioma. 61
30893269 2020
2
Spectrum of peripheral retinal ischemia in Wyburn-Mason syndrome. 61
32181415 2020
3
Long-term follow-up of intracranial arteriovenous malformations with frontal capillary malformation (Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome): three case reports. 61
32424846 2020
4
Wyburn-Mason Syndrome in an 11-Year-Old Girl. 61
32407445 2020
5
[Central venous occlusion in Wyburn-Mason syndrome]. 61
31209569 2020
6
Detection of Occult Arteriovenous Malformation With Annular Array Ultrasonography. 61
32348541 2020
7
Dilated and tortuous retinal vessels as a sign of Cantu syndrome. 61
31584310 2019
8
Cerebrofacial Arteriovenous Metameric Syndrome Type 2. 61
31593048 2019
9
Management of retinal artery macroaneurysm exudation in Wyburn-Mason syndrome with intravitreal ranibizumab. 61
30900598 2019
10
Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment. 61
30451208 2018
11
Image Gallery: Wyburn-Mason syndrome with a chronic wound. 61
30222886 2018
12
RETINAL ARTERIOVENOUS MALFORMATION. 61
27533644 2017
13
No Perception of Light in a Child With Wyburn-Mason Syndrome. 61
27637023 2016
14
Wyburn Mason Syndrome: A Rare Phacomatosis. 61
27450821 2016
15
Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome. 61
27112169 2016
16
Wyburn-Mason Syndrome. 61
26707436 2016
17
Mosaic Neurocutaneous Disorders and Their Causes. 61
26706010 2015
18
Hemispheric Retinal Arteriovenous Anastomoses: (Wyburn-Mason Syndrome). 61
26562512 2015
19
Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome. 61
25906291 2015
20
Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion. 61
26247458 2015
21
Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation. 61
25828823 2015
22
Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome. 61
24171831 2015
23
Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report. 61
25884956 2015
24
PHACE(S) syndrome. 61
26564079 2015
25
Wyburn-Mason syndrome. 61
24875256 2014
26
Duane type I retraction syndrome associated with Wyburn-Mason syndrome. 61
22697299 2013
27
Racemose hemangioma type 2: the first case report from the Middle East. 61
23053770 2013
28
Teaching NeuroImages: Atypical Wyburn-Mason syndrome. 61
22946119 2012
29
Junctional visual field loss in a case of Wyburn-Mason syndrome. 61
21613961 2012
30
A twisted mess. 61
21621808 2012
31
Spontaneous regression in a case of racemose haemangioma archer's type 2. 61
25390417 2011
32
Spontaneous development of macular ischemia in a case of racemose hemangioma. 61
21792280 2011
33
Wyburn-Mason syndrome. 61
21046099 2010
34
Vascular tumors of the retina and choroid: diagnosis and treatment. 61
20844673 2010
35
Pediatric and inherited neurovascular diseases. 61
20561493 2010
36
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
37
Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report. 61
20464122 2010
38
Wyburn-Mason syndrome: a case report. 61
20681369 2010
39
[Spectral optical coherence tomography analysis of a retinal arteriovenous malformation (Wyburn-Mason syndrome)]. 61
19892434 2009
40
[Retinal racemose hemangioma (Wyburn-Mason syndrome)--a patient ten years follow-up: case report]. 61
19820799 2009
41
Pathogenesis and radiobiology of brain arteriovenous malformations: implications for risk stratification in natural history and posttreatment course. 61
19409010 2009
42
[Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome]. 61
19159963 2009
43
Wyburn-Mason syndrome: a case report. 61
17938868 2008
44
Orbital exenteration after transarterial embolization in a patient with Wyburn-Mason syndrome: pathological findings. 61
18773270 2008
45
Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder. 61
18548189 2008
46
Fibrotic racemose haemangioma of the retina. 61
18454409 2008
47
The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. 61
18501269 2008
48
Wyburn-Mason syndrome. 61
18241621 2008
49
Wyburn-Mason syndrome associated with thyroid arteriovenous malformation: a first case report. 61
17569976 2007
50
A case report of Wyburn-Mason syndrome and review of the literature. 61
17235577 2007

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

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