autosomal-dominant pattern. Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature. Most individuals with MFS have another affected family member. About 75% of cases are inherited. On the other hand, about 15–30% of all cases are due to de novo genetic mutations; such spontaneous mutations occur in about one in 20,000 births. Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency. It is associated with variable expressivity; incomplete penetrance has not been definitively documented.
medical diagnosis of Marfan syndrome
symptom of Andersen–Tawil syndrome
medical cause of Long QT syndrome
symptoms of Rotor syndrome
symptoms of Jervell and Lange-Nielsen syndrome
symptom of Rotor syndrome
complications of Marfan syndrome
onset of Klippel–Feil syndrome