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Children's geneticist, children's doctor

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Symptoms of Marfan syndrome

Alexey Portnov, medical expert
Last reviewed: 23.04.2024

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Symptoms of Marfan syndrome are characterized by early onset and gradual formation. In newborns, only arachnodactyly and dolichostenomelia are noted. Patients are distinguished by high growth, lack of body weight, dolichocephaly, elongated face, long thin limbs (dolichostenomelia), arachnodactyly, hypoplasia of muscles and subcutaneous tissue, awkward movements. The skin is hyperelastic, the joints are hypermobile, often meet the high arcuate palate, deformities of the chest (funnel-shaped, keeled) and spinal anomalies (scoliosis in 60%, kyphosis, juvenile osteochondrosis, hypermobility in the cervical region), flatfoot, systolic murmur. The length of the third finger of the hand is 10 cm or more (screening test for Morfan syndrome in older children); the ratio of the range of arms to the length of the body is more than 1.03. The pathology of vision (myopia of high degree, subluxation - in 75% of patients, sphericity or diminution of lens sizes, detachment of the retina) and asthenic physique become noticeable in 1-3 years, chest deformities are formed in 4-7 years, cardiovascular pathology - in 2-7 years and later, changes in the skeleton are maximal to 14-16 years.

Characteristic lesions of large vessels and heart (up to 90% of patients), most often detect prolapse of the mitral valve, dilate the aorta up to its aneurysm. Often identify femoral or inguinal hernia, varicose veins, habitual dislocations, bleeding, nephroptosis, emphysema of the lungs, spontaneous pneumothorax. Intellect is reduced in 20-25% of patients, in 50% of cases, violations of the emotional-volitional sphere are expressed. At the same time, among the patients (Pharaoh Akhnaton, A. Lincoln, N. Paganini, HK Andersen, Sh. De Gaulle, KI Chukovsky), people with high intellect, emotionality, creative and non-standard thinking.

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