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The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.
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Marfan Syndrome
Marfan Syndrome
Prevalence:
~200K
connective_tissue
Official
·
OMIM:154700
Official
·
ORPHA558
Connective tissue disorder caused by mutations in FBN1. Affects heart, eyes, and skeletal system.
Associated Genes
FBN1
Fibrillin 1
Chromosome 15
Autosomal Dominant