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Arachnodactyly( Marfan syndrome): causes, symptoms, diagnosis

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gene mutation Arachnodactyly or Marfan Syndrome is the genetic disease of the autosomal dominant type that affects the connective tissue. Characterized by long arms and legs, very thin and thin fingers, as well as a thin physique.

These people have cardiovascular defects, often manifested in the form of pathologies of valvular and aortic valves. The disease received its name from the name of the French pediatrician Marfan, who first described the patient for 5 years with long thin legs and fingers.

This genetic disease occurs as a result of disruption of connective tissue function of and is associated with significant polymorphism of symptoms. It can be an aneurysm of the aorta, myopia, gigantism, deformation of the chest, ectopia of the lens, kyphoscoliosis, ectasia of the dura mater and other abnormalities.

Arachnodactyly does not depend on the sex of the patient. Among the children, the percentage is 6.8%, most of them boys. The prevalence of the disease is 1:10 000 people.

Contents of the article

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  • The causes of the mutation
  • The main symptoms that accompany the Marfan syndrome
    • Changes in the musculoskeletal system
    • Visual impairment
    • Central nervous system disruption
    • Cardiovascular disorder
    • General clinical picture
  • Modern diagnostic methods for the diagnosis of the disease
  • Treatmentarachnodactyly in all its manifestations
  • Video: Than excessive joint flexibility

Reasons of mutation

Marfa syndromeand - an anomaly at birth, which is inherited in an autosomal dominant manner. The reason for this is mutation of the gene FBN1 , which is responsible for the synthesis of the structural protein of the intercellular matrix - fibrillin. It affects the elasticity and contractile properties of connective tissue. The lack of fibrillin and its pathology contributes to the disruption of the formation of fibrous structure, loss of strength of connective tissue and the inability to withstand physical stress.

In 3/4 of all cases, the cause of Marfan's syndrome is , the hereditary nature of , and in others it is the primary mutation. If a father has an age of more than 35 years in history, there were cases of this anomaly, the likelihood that the disease will suffer and the child is very high.

Main symptoms that accompany Marfan's syndrome

isolates two forms of the manifestation of the arachnodactyly syndrome , which depend on the degree and amount of affected systems and organs:

  1. is erased, having a mild severity in 1-2 systems;
  2. expressed with mild changes in 3 systems, in one system or in 2-3 systems or more.

The degree of severity is subdivided into light, medium and heavy. According to the characteristic features of the course of the disease, is stable and progressive Marfan syndrome .

Symptoms of the disease are subdivided depending on the localization of the manifestation of connective tissue dysplasia. The main symptoms of the disease are:

Changes in the musculoskeletal system

Most of the signs of the disease is associated with a disorder of the bone system. The growth of the patient is usually above average. The asthenic type of physique, narrow skull with bird features, too narrow and deformed thorax, flat feet, arachnodactyly of bones, deformation of the spine, hypermobility of tendons and joints are characteristic.

Symptoms of Marfan syndrome

A list of the main symptoms that accompany arachnodactyly can be seen on the photo

In addition to disproportions of the limbs and high growth, other malfunctions occur in the functioning of the bone system. Most often it is a scoliosis, a deformed funnel-shaped chest, very flexible joints, an incorrect bite and a high sky, a deformation of the toes. There may be pain in the muscles, joints and bones. Also, sometimes there may be a speech disorder, osteoarthritis is possible at an early age.

Visual impairment

The disease can also affect the eyesight. Very often, patients are diagnosed with nearsightedness and astigmatism, and, more rarely, hyperopia. The following disorders are also possible: myopia, blue sclera, anerydia, ectopia and subluxation of the lens, hypermetropia of high degree, coloboma, aphakia.

In 80% of cases there is a violation of the lens, and on one or both eyes. Vision problems can occur after weakening connective tissue, caused by retinal bundle. Another ophthalmic problem associated with arachnodactyly is glaucoma, which occurred at a fairly early age.

Central Nervous System Disturbance

One of the serious consequences of Marfan's syndrome is dural ectasia, which is characterized by stretching and weakening of the solid membrane of the brain( membrane).Pain in the back, lower back, legs, pelvis and abdomen, headache may not manifest itself or immediately disappear as soon as a person lies on a flat and flat surface on his back. In connection with this, x-ray of the waist, magnetic resonance imaging is prescribed.

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To neurological problems in arachnodactyly include a degenerative disease of the intervertebral bones and back disks and the development of the pathology of the autonomic nervous system.

Disturbance in the cardiovascular system

occur in the following systems and bodies :

  • heart and main vessels;
  • violation of intraventricular conduction;
  • mild hypertrophy of the left ventricular myocardium;
  • aortic aneurysm;
  • aortic insufficiency;
  • mitral valve prolapse;
  • hypoplastic enlargement of pulmonary artery and aortic root, "hanging" heart;
  • bicuspid or enlarged aortic root;
  • failure of intracardiac dynamics;
  • mitral insufficiency( myxomatous degeneration of the valves, enlargement of their area and expansion of the fibrous ring, increased prolapse and dilatation of the valves).

Arthritis of the joints of fingers on hands Problems with limb joints can be symptoms of arthritis of the fingers.

Learn more in which cases the orthopedic collar of Shantz for newborns is appointed and how to use it right here.

General clinical picture of

In general, the signs of the disease look like this: in patients there is muscle weakness, activity in exercise is reduced. The patient has low body weight, muscle hypotension, muscle and muscle hypoplasia, small lung size, long intestine, sinus aneurysms of the Valsalva.

Also the patient may have pituitary upset: high growth, diabetes insipidus, acromegaloid disorders, long limbs and feet, autonomic disorder, acromegaloid disorders.

Diagnostics of the diagnosis of

Weakness of muscles used by modern medicine Diagnosis of Marfan syndrome is made on the basis of hereditary factors, severe symptoms, examination of the patient, X-ray results, ophthalmic and genetic examinations, as well as ECHO, ECG and laboratory tests.

phenotypic tests of are performed during the diagnosis to determine the ratio of brush and height, the length of the middle finger, the Varga index, the thumb test for arachnodactyly and the wrist coverage.

With , ECG and ECG KG determine cardiac rhythm disturbances, myocardial hypertrophy, mitral valve prolapse, chord rupture, and left ventricular enlargement.

With the radiography of , you can see extended arches of the root and aorta, large heart sizes. X-ray of the hip joints will show protrusion of the acetabulum.

MRI of the spine allows you to determine the ectasia of the hard shell of the brain, dilatation and aortic aneurysm will show CT and MRI of the heart and blood vessels.

Using biomicroscopy and ophthalmoscopy , it is possible to detect ectopic lens. Identification of genes will show a mutation in the FBN1 gene.

Treatment of arachnodactyly in all its manifestations

To date, there is no cure for Marfan's syndrome per se. But in recent years, the life expectancy of patients with Marfan syndrome has become significantly higher. The treatment methods for are determined as the disease progresses and especially important are the ways to prevent it. Therefore, the main course of treatment is aimed at preventive measures to develop the disease and subsequent complications of the heart and blood vessels. This also applies to young children - all actions should be aimed at slowing the development of the aortic aneurysm.

In , the course of treatment of disease includes conservative and surgical methods of correction of cardiovascular disorders, lesions of the organs of vision and skeleton. If the aorta in diameter is no more than 4 cm, the patient is prescribed calcium antagonists, ACE inhibitors or β-adrenoblockers.

Surgical intervention of should be performed if the aorta diameter of the Flexible arm joint is more than 5 cm, there is mitral valve prolapse, heart valve failure, and aortic dissection. In some cases, prosthetics of the mitral valve of the heart are performed.

In case of problems with eyesight, patients are assigned to correct it, choosing glasses and contact lenses. In particularly severe cases, is performed by to correct vision by laser or surgical intervention.

In childhood, in the case of skeletal disorders, performs surgical stabilization of the spine, hip joint prosthetics and thoracoplasty.

The course of treatment also includes the intake of vitamins, metabolic and pathogenetic therapy with the normalization of collagen. An important component is the work of a physiotherapist who, in the treatment of Marfan's syndrome, includes an electric shock( TENS-therapy ), as well as ultrasound and other methods to improve the performance of the skeleton, affecting the growth and length of hands, life expectancy.

Video: Than excessive flexibility of joints is dangerous

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