The Role of Stigma of Dyzembryogenesis in the Diagnosis of Orphan Diseases in Children

Abstract

In order to identify the role of the stigma of dysembryogenesis in the diagnosis of orphan diseases in children, data from 168 medical histories of children aged 1 to 18 years with a diagnosis of glomerulonephritis (acute-130 and chronic-38) for 2017-2021, who received inpatient treatment in a multidisciplinary children's hospital, were analyzed. ASMI clinic. It was found that currently orphan diseases in children (Alport syndrome) are underdiagnosed, and timely detection of the stigma of dysembryogenesis plays an important role in the early diagnosis of the disease. Stigmas of dysembryogenesis, such as a flattened occiput, pronounced brow ridges, hypertelorism of the eyes, epicanthus, high Gothic palate, anomaly of the auricles, hypertelorism of the nipples, chest deformation, sandal-shaped gap between 1-2 fingers of the hands and feet, clinodactyly can be considered as early phenotypic signs Alport syndrome in children.