Crouzon Syndrome

Crouzon Syndrome

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

Crigler-Najjar Syndrome

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

Cat Eye Syndrome

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

Coffin-Lowry Syndrome

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…

costello syndrome

Costello Syndrome

Costello syndrome is a rare hereditary disease, which is manifested by the characteristic features of the phenotype, multiple congenital malformations. The disease is caused by a mutation of the HRAS gene and is inherited in an autosomal dominant type. Typical signs of the syndrome are dysphagia, cardiovascular diseases, growth retardation, and psychomotor development. The plan…