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Neonatal progeroid syndrome: characteristics and treatment

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Neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome, is an extremely rare genetic disease that causes an aged appearance of the baby shortly after birth, accompanied by very distinct features, such as a triangular and undeveloped face.

In addition, babies with this type of syndrome usually also exhibit delayed physical development, muscle weakness, difficulty breastfeeding and delayed intellectual development. Some may even have more serious changes, which prevent survival after the first year of age.

Although the specific causes of this syndrome are not known, it is possible that it is caused by a genetic mutation that is passed on from parents to children, however, the chances of it happening are greater when both parents had cases of the disease in the family.

Main symptoms and characteristics

The main characteristic of this syndrome, in addition to the delay in the development of the fetus in the womb, is the baby’s aged appearance, which happens due to the lack of the fat layer, which is usually under the skin, which ends up leaving the skin thinner, more fragile, dry and aged.

In addition, other features include:

  • Triangular face with protruding forehead; Small and poorly developed cheek bones; Lack of hair, eyelashes and eyebrow; Thin arms and legs with large hands and feet; Delay in physical development; Delay in intellectual development.

In most cases, it is very difficult to diagnose the syndrome during pregnancy and, therefore, it is usually only identified by the pediatrician in the first days after delivery, through the observation of this type of characteristics in the baby.

This disease can often be confused with progeria, an alteration that causes the child's accelerated aging and whose symptoms usually appear around 2 years of age. Understand more about what progeria is.

How the treatment is done

There is no cure for neonatal progeroid syndrome and, therefore, treatment is only done to correct some changes, relieve symptoms and improve the baby's comfort and quality of life.

Thus, the treatment is usually adapted to each baby and may include a team of several health professionals in addition to the pediatrician, such as neurologists, cardiologists or physical therapists, for example.

In cases where the baby is unable to breastfeed, the pediatrician may advise to have surgery to place a small tube directly from the skin to the stomach, in order to allow the baby to properly feed.

Neonatal progeroid syndrome: characteristics and treatment