Fragile X syndrome is a hereditary disease characterized by persistent intellectual decline, autism spectrum disorders and specific phenotypic features. The key symptom is a lack of cognitive functions. Hyperactivity, lack of communicative abilities, isolation are noted. The face is elongated, the auricles are large, the forehead is protruding, the tip of the nose is curved.…
Muckle-Wells syndrome is a hereditary disease from the group of cryopyrin—associated periodic syndromes (CAPS), which occurs due to a mutation of the NLRP3 gene. Pathology is manifested by recurrent fever, skin rashes, progressive hearing disorders. Eye damage and joint inflammation are also often observed. Biochemical and immunological blood tests, genetic testing, instrumental methods (ophthalmoscopy, X-ray…
Laurence-Moon-Bardet-Biedl syndrome is an autosomal recessive neuroendocrine disease characterized by obesity, dystrophic lesions of the retina, intellectual disorders. Pathology is also manifested by various deformities of the skeleton, congenital malformations of internal organs, neurological complications. To diagnose the disease, neuroimaging, fundus examination, and a comprehensive laboratory examination are required. Supportive therapy includes medications (nootropics, hormones),…
Leigh syndrome is a genetically heterogeneous hereditary disease characterized by a variety of metabolic disorders and the formation of components of the central nervous system. Symptoms of this pathology, as a rule, manifest themselves in early childhood, they include muscle hypotension, problems with feeding and delayed psychomotor development. With further progression of the disease, epileptic…
Lesch-Nyhan syndrome is a hereditary disease that occurs when there is a violation of purine metabolism, excessive accumulation of uric acid in the body. It develops due to a genetic mutation that causes a deficiency of the enzyme HGPRT. It is manifested by attacks of gout, severe neurological deficiency, self-harming behavior. Diagnosis of the disease…
Israeli scientists have achieved the disappearance of brain tumors in laboratory mice when they discovered the source of their energy. Work on drugs for people will begin soon. In a study conducted by experts from Tel Aviv University, laboratory mice were rid of glioblastoma, the most deadly brain tumor. This happened after scientists were able…
Crouzon syndrome is a rare genetic disease accompanied by progressive deformities of the facial and cerebral part of the skull and craniosynostosis with the development of concomitant disorders. Symptoms of this condition are a change in the shape of the head (brachycephaly, scaphocephaly, trigonocephaly), a hooked nose, hypoplasia of the middle third of the face,…
Crigler-Najjar syndrome is a genetic disease from the class of fermentopathies characterized by a violation of one of the links in the process of neutralization and elimination of bilirubin – conjugation. Symptoms of this condition are jaundice of hepatic genesis and severe neurological disorders that can lead to death even in infancy. Diagnosis is carried…
Cat eye syndrome is a rare genetic disease that is characterized by disorders of the development of the eyes, the facial skeleton, and various anomalies of internal organs. Pathology occurs when there is a so-called additional marker chromosome in the human karyotype. The syndrome is manifested by a pathognomonic triad of signs: coloboma of the…
Coffin-Lowry syndrome is a rare genetic disease with an X—linked transmission mechanism, which is characterized by severe mental retardation, multiple phenotypic features. Patients have specific features of appearance: high forehead, hypertelorism, large protruding nose. In addition to intellectual disabilities, growth retardation, hearing loss, and cardiac complications are observed. The basis for the diagnosis of Coffin-Lowry…