Capillary malformation-arteriovenous malformation 2
Summary
Excerpted from the GeneReview:Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Pinar Bayrak-Toydemir
- David A Stevenson
- view full author information
Available tests
13 tests are in the database for this condition.
Clinical tests (13 available)
Clinical features
Help- Abnormality of the cardiovascular system
- Vein of Galen aneurysmal malformation
Vein of Galen aneurysmal malformation
- MedGen UID: 140912
- Concept ID: C0431420
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Vein of Galen aneurysmal malformation
- Abnormality of the integument
- Capillary malformation
Capillary malformation
- MedGen UID: 90955
- Concept ID: C0340803
- Finding: Congenital Abnormality
Abnormality of the integument
- Telangiectasia
Telangiectasia
- MedGen UID: 21088
- Concept ID: C0039446
- Finding: Finding
Abnormality of the integument
- Capillary malformation
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