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Disease Profile

Cobb syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

All ages





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Cutaneomeningospinal angiomatosis; Spinal arteriovenous metameric syndrome


Blood Diseases; Congenital and Genetic Diseases; Nervous System Diseases;


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

Orpha Number: 53721

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.

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.

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.

The disease course is unpredictable and the lesions may remain asymptomatic for long periods of time.

Visit the Orphanet disease page for more resources.


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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Joint pain
Bone pain
Increased reflexes
Nevus flammeus
port-wine stain
Partial paralysis of legs
Sensory neuropathy
Damage to nerves that sense feeling
Spinal arteriovenous malformation
Urinary bladder sphincter dysfunction
Visceral angiomatosis
30%-79% of people have these symptoms
Cutaneous angiolipomas

[ more ]

5%-29% of people have these symptoms
Abnormality of the kidney
Abnormal kidney
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

Death of body tissue due to lack of blood flow or infection


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).

Learn more

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.