Marfan Syndrome

What is Marfan Syndrome?

Marfan’s syndrome (arachnodactyly, partial gigantism, mesodermal dystrophy) is a hereditary autosomal dominant disease. The symptom complex includes malformations of the skeleton, soft tissues, ecto and endodermal abnormalities due to dysfunction of the pituitary-diencephalic system.

Symptoms of Marfan Syndrome

Skeletal malformations in Marfan syndrome are abnormally long upper and lower extremities, especially fingers that are elongated and fancifully curved (“spider paws”), chicken or funnel chest, non-closure of vertebral arches, valgus deviation of the first finger and hallux valgus, flatfoot. Soft tissue abnormalities are manifested by underdevelopment of skeletal muscles, its weakness, poor development of the subcutaneous layer, excessive elasticity of the capsule-ligamentous apparatus of the joints, which contributes to overflexing of the fingers, subluxation of the joints. At the heart of heart defects is the insufficiency of the valve apparatus, especially the aortic valves. There is also an aortic aneurysm, exfoliating an aortic aneurysm. Malformations of the lungs are a decrease in segments or lobes of the lungs. Characteristic signs of Marfan syndrome are congenital ectopia of the lens, blue sclera, iritis, glaucoma, myopathy, lack of eyelashes, in addition, underdevelopment of the chin, large nose (“bird” face), senile face in children.

Ectopy of the lenses, mobile lenses, as well as anisocoria observed in Marfan syndrome, the absence of pupil reaction to light, nystagmus, hydrocephalus, brain dysplasia, diabetes insipidus, autonomic disorders, mental disorders are referred to as ectodermal malformations, and hypoplasia or intestinal hyperplasia are referred to .

Marfan Syndrome Treatment

The prognosis of the disease depends on the severity of cardiovascular disorders. It should be added that the development of aortic insufficiency can occur in patients older than 50-80 years. Subacute bacterial endocarditis sometimes develops.