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Disease Profile

Extracranial arteriovenous malformation

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.


US Estimated

Europe Estimated

Age of onset





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)

Extracranial AVM; Head and neck arteriovenous malformation; Head and neck AVM


Arteriovenous malformations or AVMs are rare vascular malformations (abnormal tangles of blood vessels where direct connections form between arteries and veins) which disrupt natural blood flow. AVMs most commonly affect the central nervous system (brain and spinal cord) but can involve any organ. Those affecting the face, head or neck are often called extracranial arteriovenous malformations (AVMs). Although present at birth, AVMs may not be clinically evident until childhood or adolescence. Complications may include disfigurement, destruction of tissue, obstruction of vital structures, pain, bleeding, ulceration and rarely, cardiac overload. AVMs may be treated with surgery, embolization, or both. The goal of treatment is to control rather than cure the underlying problem.[1]


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      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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Extracranial arteriovenous malformation. Click on the link to view a sample search on this topic.


        1. Liu AS, Mulliken JB, Zurakowski D, Fishman SJ, Greene AK. Extracranial arteriovenous malformations: natural progression and recurrence after treatment. Plastic and Reconstructive Surgery. 2010; 125(4):1185-1194. https://www.ncbi.nlm.nih.gov/pubmed/20335868. Accessed 3/27/2014.