Monodactyly

<без введения> Monodactyly is a rare congenital malformation of the hands and feet in the form of an additional anomaly when one of the hands and/or feet has a normal structure (usually the first finger). The defect is not detected immediately, it is “not noticed” for many years and is first noticed after some random event (for example, during surgery for an aneurysm). The diagnosis is made on the basis of an examination by a pediatrician, neurologist, surgeon and other pediatricians and is based on the doctor’s knowledge of the neonatal examination of the child, auscultation of the chest to determine the presence of congenital abnormalities of the heart, radiography to identify bone deformities of the hip, special tests to exclude other forms of polydacty, as well as on radiographs of the hip joints. Monodactyly, like other systemic developmental anomalies, is very difficult to confirm using molecular genetic methods. The results of studies conducted by geneticists indicate that the frequency of somatic changes causing the formation of monodacties in children is very low (3–5%) [6]. At the same time, some studies indicate the possibility of independent functioning of abnormal genes [7], and the presence of other systemic regulatory disorders can provoke their expression.