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Symptoms of Marfan syndrome
Last reviewed: 04.07.2025
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Symptoms of Marfan syndrome are characterized by early onset and gradual development. In newborns, only arachnodactyly and dolichostenomelia are observed. Patients are distinguished by tall stature, underweight, dolichocephaly, elongated face, long thin limbs (dolichosthenomeliia), arachnodactyly, hypoplasia of muscles and subcutaneous tissue, awkwardness of movements. The skin is hyperelastic, the joints are hypermobile, a high arched palate, chest deformities (funnel-shaped, keeled) and spinal anomalies (scoliosis in 60%, kyphosis, juvenile osteochondrosis, hypermobility in the cervical spine), flat feet, systolic murmur are often encountered. The length of the third finger is 10 cm or more (screening test for Marfan syndrome in older children); the ratio of arm span to body length is more than 1.03. Pathology of vision (high myopia, subluxation - in 75% of patients, sphericity or reduction in the size of the lens, retinal detachment) and asthenic physique become noticeable at 1-3 years, chest deformities form at 4-7 years, cardiovascular pathology - at 2-7 years and later, skeletal changes are maximal at 14-16 years.
Typical lesions of large vessels and the heart (up to 90% of patients), most often found prolapse of the mitral valve, dilation of the aorta up to its aneurysm. Often revealed are femoral or inguinal hernias, varicose veins, habitual dislocations, bleeding, nephroptosis, pulmonary emphysema, spontaneous pneumothorax. Intelligence is reduced in 20-25% of patients, in 50% of cases, disorders of the emotional-volitional sphere are expressed. At the same time, among the patients (Pharaoh Akhenaten, A. Lincoln, N. Paganini, H.K. Andersen, Ch. de Gaulle, K.I. Chukovsky) people distinguished by high intelligence, emotionality, creative and unconventional thinking.
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