Marfan syndrome

Definition

A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.

Also known as Marfan syndrome, Marfan syndrome type 1, Marfan syndrome, type 1, Marfan's syndrome, MFS, MFS1 — per MONDO

Also identified as

• DOID 14323 per MONDO
• ICD10CM Q87.4 per MONDO
• ICD9 759.82 per MONDO
• MESH D008382 per MONDO
• NCIT C34807 per MONDO
• OMIM 154700 per MONDO
• Orphanet 284963 per MONDO
• Orphanet 558 per MONDO
• SCTID 19346006 per MONDO
• UMLS C0024796 per MONDO

Affected Organs