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.