Schinzel-Giedion syndrome

Schinzel-Giedion syndrome is a rare congenital disease that causes skeletal malformations, facial changes, urinary tract obstruction, and severe delays in infant development.

Schinzel-Giedion syndrome is usually non-hereditary and can therefore occur in families without a history of the disease.

  • Schinzel-Giedion syndrome has no cure.
  • But surgeries can be performed to correct certain malformations and improve the baby’s quality of life.
  • However.
  • Life expectancy is low.

Symptoms of Schinzel-Giedion syndrome include

These symptoms are usually identified shortly after birth and, as a result, the baby may need to be hospitalized to treat symptoms before leaving the maternity ward.

In addition to the characteristic symptoms of the disease, babies with Schinzel-Giedion syndrome also have progressive neurological degeneration, an increased risk of recurrent tumors, and respiratory infections, such as pneumonia.

There is no specific treatment for Schinzel-Giedion syndrome, however, some treatments, including surgery, can be used to correct malformations caused by the disease, thus improving the baby’s quality of life.

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