Aicardi syndrome is an X—linked genetic disease characterized by a combination of agenesis of the corpus callosum with the formation of chorioretinal lacunae and variable embryonic skeletal abnormalities. A typical clinical picture is a triad of signs: infantile spasms, mental retardation, visual impairment. Diagnosis is carried out using electroencephalography, cerebral MRI, ophthalmoscopy, study of visual…
Including fish rich in omega-3 fatty acids in your diet helps prolong life, according to a study by the Harvard School of Public Health in Boston. For 16 years, specialists monitored the health of 2,600 people whose age was 65 years or more. Attention was focused on the heart and blood vessels. It turned out…
Aarskog-Scott syndrome is a genetic disease characterized by numerous anomalies in the development of the face, limbs (especially fingers), and genitourinary system. Symptoms of this condition are wide lips, hypertelorism, underdevelopment of the upper jaw, strabismus, brachydactyly, genital anomalies, mental and physical development delay. Diagnosis of Aarskog-Scott syndrome is made on the basis of the…
MERRF syndrome is a rare genetic disease caused by structural and biochemical defects of mitochondria, characterized by severe damage to the central nervous system and muscle tissue. The clinical picture may differ even within the same family. Symptoms include various types of epileptic seizures, impaired coordination, and muscle weakness. The confirming diagnostic methods are histological…
Septo-optic dysplasia is a congenital disease related to the defects of the prosencephalic group, characterized by abnormalities in the development of the optic nerve, pituitary gland and transparent septum. Symptoms of this condition are nystagmus and other visual disturbances, signs of endocrine disorders (growth retardation and puberty), possible development of mental retardation. Diagnosis is made…
Familial hypercholesterolemia (FH) is a hereditary pathology characterized by a marked increase in the amount of low–density lipoproteins (LDL) in the bloodstream and a high risk of early development of coronary heart disease. In most cases, it is asymptomatic. Sometimes there is chest pain, blisters on the hands, knees and around the eyes, tendon and…
Piebaldism is a rare hereditary pathology characterized by a violation of pigment metabolism, the appearance of a characteristic area of congenital leukoderma on the head and a white strand of hair. In children, a site of triangular depigmentation of the skin in the forehead area is determined from birth. As you get older, it increases,…
Pseudoachondroplasia is a hereditary disease from the group of osteochondrodysplasia, it is considered the most common condition of this type. Symptoms of this pathology are disproportionate dwarfism, curvature of the lower extremities (O- or X-shaped legs), increased mobility of the joints (except for the elbow) and other malformations of the skeleton. Diagnosis of pseudoachondroplasia is…
Fibrodysplasia ossificans progressiva is a severe genetic disease characterized by metabolic disorders in the tissues of muscles, tendons and ligaments, which leads to the formation of calcinates in them. Symptoms of this condition are seals in the soft tissues of the neck, back and extremities, muscle hypotension, further pronounced deformities of the spine, stiffness of…
Progeria is a rare genetic disease characterized by premature aging of the body, corresponding changes in internal organs. It is manifested by hyperpigmentation, thinning and loss of elasticity of the skin, graying and hair loss, an increase in the size of the skull, a decrease in its facial part, exophthalmos, the development of vascular atherosclerosis,…
