Ombredanna Syndrome

OMBREDANN SYNDROME is a rare hereditary autosomal dominant disease characterized by tissue anemia and liver hypoplasia. There is a defect in the substance of the liver tissue, leading to reduced, increased or absent hyperchromatization of the nuclei. Liver hypoplasia occurs both in isolated form and in combination with vascular lesions. The frequency of the syndrome is from 2 to 8 cases per 5 million newborns.

Ombredana syndrome is a rare genetic disease that occurs with tissue anemia and liver hypertrophy. It develops due to a defect in the substance of the liver cells, causing a weakening or failure of the functional load of the liver. The consequence of this is a violation of the blood circulation of the inner medulla of the organ, as well as the wall of the port vein. The disease occurs at different ages and includes a combination of symptoms at the genetic level. The cause is said to be a defect in chromosome 11. The nucleotide sequence of the ODF2 gene makes it possible to predict hereditary predisposition and its course based on genetic data. Before the end of the 1st trimester of pregnancy, indicators of the disease are quite often determined in the mother’s blood - a specific genetic marker albumin-enzymatic function helps to obtain objective information about risk conditions.