National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cobb syndrome



Other Names:
Cutaneomeningospinal angiomatosis; Spinal arteriovenous metameric syndrome
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.
Last updated: 3/1/2007

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 17 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthralgia
Joint pain
0002829
Bone pain 0002653
Hyperreflexia
Increased reflexes
0001347
Nevus flammeus
port-wine stain
0001052
Paraparesis
Partial paralysis of legs
0002385
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Spinal arteriovenous malformation 0002390
Urinary bladder sphincter dysfunction 0002839
Visceral angiomatosis 0100761
30%-79% of people have these symptoms
Cutaneous angiolipomas 0006773
Fatigue
Tired
Tiredness
[ more ]
0012378
5%-29% of people have these symptoms
Abnormality of the kidney
Abnormal kidney
0000077
Angiokeratoma 0001014
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ]
0001635
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Kyphoscoliosis 0002751
Lymphangioma 0100764
Showing of 17 |
Last updated: 7/1/2020

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cobb syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.