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Marfan syndrome: genetic basis and clinical manifestations
1Department of Pediatrics, University of Connecticut Health Center, Farmington 06030.
Seminars in Dermatology
|September 1, 1993
Abstract:
Marfan syndrome is a systemic heritable disorder of connective tissue. The manifestations of the disorder are primarily from the musculoskeletal, cardiovascular, and ocular systems. Marfan syndrome is caused by mutations in the fibrillin gene located on chromosome 15.
Insights
Marfan syndrome is a rare genetic disorder affecting connective tissue. It is caused by mutations in the fibrillin gene, impacting the musculoskeletal, cardiovascular, and ocular systems.
Area of Science:
- Genetics
- Connective Tissue Disorders
- Systemic Diseases
Background:
- Marfan syndrome is a hereditary connective tissue disorder.
- It affects multiple organ systems, including musculoskeletal, cardiovascular, and ocular.
- The genetic basis involves mutations in the fibrillin gene.
Purpose of the Study:
- To summarize the key features of Marfan syndrome.
- To highlight the genetic cause and affected systems.
- To provide a concise overview for researchers and clinicians.
Main Methods:
- Literature review of Marfan syndrome.
- Analysis of genetic and clinical manifestations.
- Synthesis of information on fibrillin gene mutations.
Main Results:
- Marfan syndrome is a systemic disorder.
- Primary manifestations are in the musculoskeletal, cardiovascular, and ocular systems.
- Mutations in the fibrillin gene on chromosome 15 are the cause.
Conclusions:
- Marfan syndrome is a significant genetic disorder with widespread effects.
- Understanding the fibrillin gene's role is crucial for diagnosis and management.
- Further research into connective tissue disorders is warranted.