Marfan syndrome
People with Marfan
syndrome tend to have excessively long bones and are commonly thin, with
long, “spider-like” fingers. Other problems include skeletal
malformations; abnormal position of the lens of the eye; and enlargement
at the beginning part of the aorta, the major vessel carrying blood
away from the heart. If left untreated, an enlarged aorta can lead to
hemorrhage and even death.
This disorder results from mutations in the gene that determines the structure of fibrillin-1, a protein important to connective tissue.
Some Common Heritable Disorders of Connective Tissue
- Ehlers-Danlos syndrome symptoms include changes in skin, joints, blood vessels, and other tissues such as ligaments and tendons.
- Epidermolysis bullosa has blistering of the skin
- Osteogenesis imperfecta - bones that fracture easily, low muscle mass, and joint and ligament laxity