Schinzel-Giedion Syndrome is a rare congenital disease that causes the appearance of malformations in the skeleton, changes in the face, obstruction of the urinary tract and severe developmental delays in the baby.
Generally, Schinzel-Giedion Syndrome is not hereditary and, therefore, can appear in families with no history of the disease.
Schinzel-Giedion Syndrome has no cure, but surgeries can be performed to correct some malformations and improve the baby's quality of life, however, life expectancy is low.
Symptoms of Schinzel-Giedion Syndrome
Symptoms of Schinzel-Giedion Syndrome include:
- Narrow face with large forehead; Mouth and tongue larger than normal; Excessive body hair; Neurological problems such as visual impairment, seizures or deafness; Severe changes in the heart, kidneys or genitals.
These symptoms are usually identified soon after birth and, therefore, the baby may need to be hospitalized to treat the symptoms before being discharged from the maternity hospital.
In addition to the characteristic symptoms of the disease, babies with Schinzel-Giedion syndrome also have progressive neurological degeneration, increased risk of tumors and recurrent respiratory infections, such as pneumonia.
How to treat Schinzel-Giedion Syndrome
There is no specific treatment to cure Schinzel-Giedion Syndrome, however, some treatments, especially surgery, can be used to correct malformations caused by the disease, improving the baby's quality of life.
