Genetics of Marfan Syndrome

Abstract
Marfan syndrome is an autosomal dominant connective tissue disorder, which affects three major body systems: skeletal, nervous and cardio-vascular. It was named after French physician, Antoine Marfan, who first described this condition in 1896. Marfan syndrome affects males and females equally and occurs in all ethnic groups. The prevalence of Marfan syndrome is 4-10 cases per 100,000 people. Some sources estimate that in the US, Marfan syndrome has an incidence of 1 in 7000 people and is more common in taller athletes, such as basketball and volleyball players because tallness in a phenotypic expression of this syndrome.

Clinical features of Marfan syndrome become more prominent with age, and in most cases, Marfan syndrome is diagnosed during early adolescent years. Due to connective tissue involvement, the syndrome may present with multiple symptoms; however, classic Marfan syndrome symptoms are considered to be: long limbs, tall height, long fingers and abnormally long arms, flat feet, scoliosis of the spine, and chest deformities (convex or concave chest). Long, narrow head and face, hypermobile joints and multiple stretch marks are common as well. Other signs, typically found on physical examination and by imaging techniques, include: aortic dilatation and dissection; ocular lens dislocation and thickening of the connective tissue in the lungs.

Read full article for:

• Genetics of Marfan syndrome
• Patterns of inheritance
• Morbidity/Mortality for Marfan syndrome
• Screening and diagnosis
• Treatment options