What are the symptoms of Down syndrome in a newborn?

Down syndrome is one of the most common genetic diseases. A healthy person has 23 pairs/46 chromosomes in their cells - 23 from the mother and 23 from the father. With Down's syndrome, the child has one more chromosome, i.e. 47. The 21st chromosome is redundant (the affected person has 3). Free trisomy 21 occurs most often (93% of cases), while the germ cell does not contain 46, but 47 chromosomes, it contains three separate copies of the 21st chromosome. About 4% of patients have translocation Down syndrome, in which two 21st chromosomes can fuse and behave as one chromosome, so there are 45 in total, but the 21st chromosome is duplicated. In the mosaic form (the remaining 3%), only some cells in the body are trisomic. It is the mildest form. If there is an extra chromosome in all cells, the disorder is more severe and the symptoms are more pronounced.

The main symptoms include slanted eye slits, a skin fold at the inner corner of the eye, a wide bridge of the nose and a flat facial appearance. In Down's syndrome, the earlobes are smaller and lower, a large tongue, a high palate, deviations in the development of the teeth and an excess skin fold on the neck are typical. Other signs include a smaller head circumference, reduced muscle tone, increased joint mobility, a wide palm and a transverse groove on the palms, short fingers, lower birth weight, congenital defects of the heart and digestive system. Not all symptoms may be present, or they may be expressed in different degrees.

In newborns, it is possible to determine Down syndrome according to external phenotypic features - smaller head circumference, often with a flattened head, lower birth weight, narrow and oblique eye slits, excess neck skin fold, flat facial appearance, hyperflexibility of joints, hypotonia (reduced muscle tension) and absence of Moro's reflex. The mouth is often open because the oral cavity is smaller than in other children and the tongue is relatively large in relation to it. For this reason, newborns often stick out their tongues.

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