Cockayne syndrome

August 12, 2017 17:52 | Genetic Diseases

syndrome is also extremely rare.Inherited in an autosomal recessive manner, and the men and women fall ill with the same frequency.In the case of this pathology can be seen atrophic changes of the skin and subcutaneous fat, whose thickness is reduced significantly, there is an increased sensitivity to sunlight, head sizes too small, as you grow more and more distinct becomes disproportionate dwarfism, show signs of mental retardation.On closer examination in a specialized hospital revealed pathological changes in the organ of vision (retinal degenerative changes, atrophy of the optic nerve).These people often suffer hearing loss including deafness.In addition, often marked disorders of the nervous system (ataxia, peripheral neuropathy).

Children with this genetic disorders are born perfectly normal, totally did not differ from healthy.Symptoms of the disease can develop very early, at the age of 6 months, but in most cases begin to appear in the 2-3-year life.The first manifestation of Cockayne's syndro

me is an increased sensitivity to sunlight exposed areas of the body, resulting in the appearance after insolation swelling and redness, which are located on the face in the form of a butterfly.Sometimes it may appear bullous rash.In addition, the child begins to significantly stunted by their peers, and also lagging behind in weight, mental retardation, characterized by emotional instability, gait disturbance, speech.Patients have a distinctive appearance: emaciated, have short stature, small head, old look, "bird" nose, sunken eyes, big ears, upper jaw excessively protruding, front teeth are strongly tilted forward, the limbs are disproportionately long hands and feet larger, bluish coloring of the tip of the skin of the nose, ears, fingers and lips, deformed joints, there is curvature of the spine, chest tight.During the radiographic examination reveal thickening of the skull bones, calcium deposits in the cavity of the skull and some other characteristic signs of the syndrome under consideration.As a result of a congenital underdevelopment glands reduced flow rate and tearing, hair thin, rare, early turning gray.In addition to changes in the retina, it is possible to note the appearance of photophobia, corneal opacities, cataracts.Disorders of the nervous system usually manifest stuttering and abnormal movements of the eyeballs.Sexual development in most cases lost.The prognosis for this syndrome unfavorable, the disease is progressing steadily in the majority of cases are fatal between 20 and 30 years from the effects of vascular atherosclerosis.

Adequate treatment has not yet been developed, and currently used is completely ineffective.Perhaps a diagnosis during pregnancy, which enables women to decide the question of the birth of a child with a genetic defect.