Marfan Syndrome
Trinity Sinkler
Marfan Syndrome
Marfan Syndrome is an autosomal dominant disease. It is caused by the misfolding of fibrillin-1, a glycoprotein which forms elastic fibers in connective tissue and contributes to cell signaling activity by binding to and sequestering transforming growth factor beta.
Symptoms
Pain areas: in the back
Heart: mitral valve prolapse or murmur
Mouth: abnormally raised roof of the mouth or crowded teeth
Visual: blurred vision or nearsightedness
Chest: bulging chest or sunken chest
Also common: abnormally long fingers, disproportionately long arms and legs, double jointed, fatigue, flat feet, scoliosis, small pupils, stretch marks, tall and slender build, or collapsed lung
Treatments/Cures
Treatment includes medications to keep blood pressure low, eyeglasses or contact lenses, and surgery.
Age group affected and race/ethnic groups
All age groups are affected and all race/ethnic groups are affected.
Two Interesting Facts
Marfan syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.
Frequency
Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once in every 10,000 to 20,000 individuals.