Cerebral cavernous malformation 4
- Synonyms
- Cerebral cavernous malformations 4; Familial Cerebral Cavernous Malformation 4
Summary
Excerpted from the GeneReview:Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Kelly D Flemming
- Edward Smith
- Douglas Marchuk
- view full author information
Available tests
2 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (2 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of the cardiovascular system
- Cerebral cavernous malformation
Cerebral cavernous malformation
- MedGen UID: 418825
- Concept ID: C2919945
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Cerebral cavernous malformation
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