aicardi syndrome

Aicardi Syndrome

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…

aarskog-scott syndrome

Aarskog-Scott Syndrome

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

MERRF Syndrome

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

Septo-optic dysplasia

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…

piebaldism

Piebaldism

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

Pseudoachondroplasia

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…

progeria

Progeria

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,…