MCID: CBB002
MIFTS: 27

Cobb Syndrome

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

Aliases & Classifications for Cobb Syndrome

MalaCards integrated aliases for Cobb Syndrome:

Name: Cobb Syndrome 52 58
Spinal Arteriovenous Metameric Syndrome 52 58
Cutaneomeningospinal Angiomatosis 52 58
Cobb's Syndrome 71
Sams 1-31 58

Characteristics:

Orphanet epidemiological data:

58
spinal arteriovenous metameric syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

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


Summaries for Cobb 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: 53721 Definition Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. Epidemiology Less than 100 cases of Cobb syndrome have been reported in the literature. There is no sex predilection. Cobb syndrome represents less than 15% of cases of spinal cord arteriovenous malformations. Clinical description The neurological symptomatology is comparable to that observed with acute haemorrhagic accidents or with chronic venous congestion of the spinal cord. The extent of the associated deficit depends on the localisation (cervical, thoracic, lumbar or sacral). These manifestations most often involve the lower limbs and are characterised by bilateral motor or sensory asymmetric deficits associated with sphincter anomalies. The morphological manifestations may be partial (appearing incomplete) in cases were some of the localisations at the same metamere are absent. The cutaneous manifestations of the syndrome are most often flat vascular lesions (port-wine stains) but angiokeratomas, angiolipomas and lymphangiomas have been reported. The medullary lesions are arteriovenous malformations. The muscular and osseous lesions may cause nonmechanical localised pain but are often asymptomatic. Etiology The syndrome is not familial or hereditary and no chromosomal anomaly has been described. The primitive events causing the disorder occur during early embryogenesis and involve a group of precursor vascular cells before the stage of migration to their definitive cell territories (skin, bone, peripheral nerve or spinal cord). Two consecutive territories may be affected resulting in multimetameric forms of the disease. Recent analysis of Cobb syndrome has led to use of the term Spinal Arteriovenous Metameric Syndrome 1-31 (SAMS 1-31), by analogy with the Cerebrofacial Arteriovenous Metameric Syndromes (CAMS 1-3) and the Cerebrofacial venous metameric syndromes (CVMS1-3). Diagnostic methods Diagnosis is made by MRI , supplemented by medullary angiography . Management and treatment Treatment of the osteomuscular malformations involves embolisation (endovascular navigation and occlusion of the arteries feeding the malformation using a biological glue) and/or surgery. Laser treatment is used for associated superficial cutaneous lesions. Radicular or medullary malformations are treated by embolisation. Indications for classic surgery are restricted to certain localisations and superficial lesions, epidural and paraspinal injections can be used if the endovascular approach fails. Radiotherapy is not indicated. Early diagnosis reduces the extent of the neurological deterioration, in particular paralysis. Prognosis The disease course is unpredictable and the lesions may remain asymptomatic for long periods of time. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cobb Syndrome, also known as spinal arteriovenous metameric syndrome, is related to arteriovenous malformation and angiomatosis. Affiliated tissues include spinal cord, skin and bone, and related phenotypes are sensory neuropathy and arthralgia

Wikipedia : 74 Cobb syndrome is a rare congenital disorder characterized by visible skin lesions with underlying spinal... more...

Related Diseases for Cobb Syndrome

Diseases related to Cobb Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 28, show less)
# Related Disease Score Top Affiliating Genes
1 arteriovenous malformation 10.6
2 angiomatosis 10.5
3 hemangioma 10.4
4 respiratory failure 10.3
5 conn's syndrome 10.3
6 paraplegia 10.3
7 back pain 10.2
8 heart disease 10.2
9 cerebrofacial arteriovenous metameric syndrome 10.2
10 hemangioma of subcutaneous tissue 10.1
11 angiokeratoma 10.1
12 klippel-trenaunay-weber syndrome 10.0
13 lipomatosis, multiple 10.0
14 varicose veins 10.0
15 ataxia-telangiectasia 10.0
16 ataxia and polyneuropathy, adult-onset 10.0
17 scoliosis 10.0
18 pleomorphic lipoma 10.0
19 visual epilepsy 10.0
20 telangiectasis 10.0
21 lymphangioma 10.0
22 congestive heart failure 10.0
23 neurofibromatosis 10.0
24 weber syndrome 10.0
25 paresthesia 10.0
26 seizure disorder 10.0
27 angioosteohypertrophic syndrome 10.0
28 rare lymphatic malformation 10.0

Graphical network of the top 20 diseases related to Cobb Syndrome:



Diseases related to Cobb Syndrome

Symptoms & Phenotypes for Cobb Syndrome

Human phenotypes related to Cobb Syndrome:

58 31 (showing 20, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensory neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000763
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
4 nevus flammeus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001052
5 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
6 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
7 paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002385
8 spinal arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002390
9 urinary bladder sphincter dysfunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0002839
10 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
11 cutaneous angiolipomas 58 31 frequent (33%) Frequent (79-30%) HP:0006773
12 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
13 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
14 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
15 angiokeratoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001014
16 abnormality of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000077
17 lymphangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100764
18 arteriovenous malformation 58 Very frequent (99-80%)
19 abnormality of the vertebral column 58 Very frequent (99-80%)
20 abnormality of the spinal cord 58 Very frequent (99-80%)

Drugs & Therapeutics for Cobb Syndrome

Search Clinical Trials , NIH Clinical Center for Cobb Syndrome

Genetic Tests for Cobb Syndrome

Anatomical Context for Cobb Syndrome

MalaCards organs/tissues related to Cobb Syndrome:

40
Spinal Cord, Skin, Bone, Heart, Kidney

Publications for Cobb Syndrome

Articles related to Cobb Syndrome:

(showing 52, show less)
# Title Authors PMID Year
1
Bilateral optic disc pits in a pediatric patient with Cobb syndrome. 61
32518855 2020
2
Anesthetic Considerations in Cobb Syndrome: A Case Report. 61
30973350 2019
3
Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review. 61
31866938 2019
4
Cobb syndrome (cutaneomeningospinal angiomatosis). 61
30150338 2018
5
Stereotactic radiosurgery as a feasible treatment for intramedullary spinal arteriovenous malformations: a single-center observation. 61
27270299 2017
6
Cervicothoracic cutaneomeningospinal angiomatosis in adults (Cobb's syndrome): A case report of acute quadriparesis. 61
28791190 2017
7
Unusual cause of lower extremity wounds: Cobb syndrome. 61
26423027 2016
8
Endovascular stent graft exclusion of a thoracic arteriovenous malformation in a patient with Cobb syndrome. 61
31724598 2016
9
Cobb syndrome: A rare cause of paraplegia. 61
26130930 2015
10
Exclusively epidural spinal metameric arteriovenous shunts: case report and literature review. 61
25450654 2015
11
Spinal arteriovenous metameric syndrome in a neonate presenting with congestive heart failure: case report. 61
24845229 2014
12
Coexistence of multiple cavernous angiomas in the spinal cord and skin: a unique case of Cobb syndrome. 61
24358995 2014
13
Sonographic findings in a neonate with Cobb syndrome. 61
22331559 2013
14
Spinal arteriovenous metameric syndrome: clinical manifestations and endovascular management. 61
22859288 2013
15
Spinal arteriovenous metameric syndrome: angioarchitecture and their prognosis. 61
22936097 2013
16
Obliteration of a metameric spinal arteriovenous malformation (Cobb syndrome) using combined endovascular embolization and surgical excision. 61
22702329 2012
17
Spinal arteriovenous malformation associated with spinal metameric syndrome: a treatable cause of long-term paraplegia? 61
22225485 2012
18
Combined endovascular and surgical resection of a giant lumbosacral arteriovenous malformation in a patient with Cobb syndrome. 61
21990846 2011
19
[Cobb syndrome or cutaneomeningospinal angiomatosis]. 61
20620124 2010
20
Neurological picture. Multiple spinal intramedullary cavernomas with vascular skin nevus or 'Cobb syndrome': a case report. 61
20460590 2010
21
Cobb syndrome: case report and review of the literature. 61
20805687 2010
22
Spontaneous cervical extradural hematoma in a cutaneo-meningospinal angiomatosis (Cobb syndrome): case report. 61
19546845 2009
23
Variety of spinal vascular pathology seen in adult Cobb syndrome. 61
19442004 2009
24
Cobb syndrome: a case report and systematic review of the literature. 61
19027589 2008
25
Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report. 61
19568998 2008
26
[Cutaneous vertebral medullary angiomatosis (Cobb syndrome)]. 61
19048543 2008
27
Acute paralysis in a 17-year-old man with subtle cutaneous vascular malformations: an unusual case of Cobb syndrome. 61
18363933 2008
28
Diagnosis and endovascular treatment of pediatric spinal arteriovenous shunts. 61
17645971 2007
29
Segmental neurovascular syndromes in children. 61
17645974 2007
30
Low-back pain and unrecognized Cobb syndrome in a child resulting in paraplegia. 61
17375552 2007
31
Spinal arteriovenous shunts presenting before 2 years of age: analysis of 13 cases. 61
16586138 2006
32
COBB syndrome treated by staged intravascular embolisation and surgery. 61
16898321 2006
33
Cobb syndrome in an Indian girl. 61
16522989 2006
34
Segmental cutaneous hemangioma and spinal arteriovenous malformation (Cobb syndrome). Case report and historical perspective. 61
16235712 2005
35
Medical imaging findings in Cobb syndrome: two case reports. 61
15978218 2005
36
Craniofacial arteriovenous metameric syndrome (CAMS) 3--a transitional pattern between CAM 1 and 2 and spinal arteriovenous metameric syndromes. 61
12898077 2003
37
Cobb syndrome associated with a verrucous (angiokeratomalike) vascular malformation. 61
12729091 2003
38
Cobb syndrome in an infant: treatment with endovascular embolization and corticosteroid therapy: case report. 61
12590699 2003
39
Cobb syndrome: case report. 61
12585726 2002
40
Classification of spinal cord arteriovenous shunts: proposal for a reappraisal--the Bicêtre experience with 155 consecutive patients treated between 1981 and 1999. 61
12182775 2002
41
Trifocal monomyelomeric spinal cord arteriovenous fistulae in a seven-year-old boy. 61
20663337 2001
42
Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report. 61
10879770 2000
43
Cutaneomeningospinal angiomatosis (Cobb syndrome) with tethered cord. 61
10325565 1999
44
Cobb syndrome. 61
9251476 1996
45
A case of Cobb syndrome associated with lymphangioma circumscriptum. 61
8864618 1996
46
[Cobb syndrome and Klippel-Trenaunay-Weber syndrome]. 61
1654237 1991
47
[Cobb syndrome (cutaneomeningospinal angiomatosis). The first case reported in Japan]. 61
2625597 1989
48
[Vertebral hemangioma. Definition, limitations, anatomopathologic aspects]. 61
2483579 1989
49
[Report of a new case of Cobb syndrome. Meningo-spinal cutaneous angiomatosis]. 61
6765612 1981
50
[Cobb syndrome: association with verrucous angioma, ipsilateral hypertrophy of the extremities and café-au-lait spots]. 61
7333398 1981
51
The Cobb syndrome: association with hereditary cutaneous hemangiomas. 61
668112 1978
52
Cobb syndrome. 61
931402 1977

Variations for Cobb Syndrome

Expression for Cobb Syndrome

Search GEO for disease gene expression data for Cobb Syndrome.

Pathways for Cobb Syndrome

GO Terms for Cobb Syndrome

Sources for Cobb 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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