Recumbent Syndrome

Lejeune syndrome (Lejeon-Genonov syndrome, Lejeuneanianism) is a rare autosomal recessive hereditary pathology caused by mutations in the UBE2I gene. In combination with other changes, patients often experience mental retardation. Lejeune discovered cases of the syndrome in relatives, as well as in children born through intersex marriages of Siamese twins. The disease has characteristic signs that distinguish it from other ailments of hereditary nature. The pathology is most noticeable in young children, as there is a high mortality rate. Genetic features of the syndrome: * female type of inheritance; * mutations occur on the X chromosome; * three main genealogical lines, including several dozen families with sick children;

The risk of manifestation increases with intrauterine infection, abortion

Jules Axel Lejeune (1982 - May 2018) was a French pediatrician and scientist known for his work in gene therapy for infertility, which helps women suffering from Turner syndrome become pregnant using donor eggs. His name is associated with a rare genetic disease, Lejeune syndrome, or Turner syndrome. Lejeune syndrome is a recessive disease that is passed from parent to child. Clinical signs of Lejeune syndrome manifest themselves in the form of congenital heart defects, inhibited fetal development, hypogonadism and various hereditary defects. However, its genetic code makes it possible to cure this syndrome completely. This discovery will significantly increase the percentage of children born to parents with Lejeune syndrome and many other gene diseases associated with gamete fertilization. In this case, the child will not develop a genetic mutation of the disease, which improves the likelihood of good health of the offspring.

Lejeune syndrome is a rare hereditary disease characterized by certain changes in the external genitalia, abdominal enlargement and diastasis of the rectus muscles, and delayed psychomotor development. The genetic disorder consists of a lack of communication between the genitourinary organs and the vascular elements of the genital arteries, which leads to their inadequate blood supply and the development of a severe form of virilization. The incidence of Legenoa syndrome in newborns does not exceed 1 case in 50 thousand; it may be classified as an anomaly. Described in the scientific work of the Belgian therapist Jean Lejon in 1935. Currently, it was detected for the first time directly at birth using an echography apparatus. It is believed that this condition can be either autosomal dominant or recessive. This rarity of the disease is due primarily to the complexity of ultrasound diagnosis of this disease, which occurs no more than one case per 70-150 thousand newborns. Nevertheless, statistics show that the birth of children of such patients with a complex of female sexual characteristics has been registered in the world only about 300 times over the past 90 years. The peak occurrence of the syndrome occurs in the first two years of the patient's life. Children are usually born with a normal feminized karyotype. By the age of two years, primary diagnosis occurs. Lezheny, but also changes in the genital organs can lead to