Marfan Syndrome

A Heritable Disorder

Sign and Symptoms

Signs: stretch marks, scoliosis, pectus excavatum, pectus carinatum, elongated bones
Symptoms: Complications in the heart (aortic dialation, aortic dissection, mitral valve prolapse), blood vessel, eye, nervous system, and lungs


Marfan Syndrome is a heritable disorder so it comes from the genetic side instead of a mechanism. More specifically it is a mutation or change in the fribrillin making gene, which plays an important role in the body's connective tissue. The disorder can be passed down from a parent or the mutation could have occurred in the egg or sperm cell.
Big image


There are a few ways to determine if one has Marfan syndrome:
-Medical and Family Histories
-Physical Exam
-Test Results
-Magnetic Resonance Imaging and Computed Tomography Scans

-Slit-Lamp Exam

-Genetic Testing

Ghent Criteria is the guidelines the specialist use to diagnosis

Big image


Marfan Syndrome has no cure but there are treatments that can help prevent or delay complications. There are treatments for the heart, eye, lungs, bone/joints, and nervous system.


With medical advances with early diagnosis and treatment, someone with Marfan syndrome can have a normal life expectancy. But if they are undiagnosed or untreated than the average life expectancy for a patient with the condition is 45 years.
Big image


Marfan syndrome affects about 1 out of every 5,000 people in the US. Everyone can have the conditions from men, women, children, and people of all races.
Big image