Definition:
Schinzel-Giedion syndrome is an extremely rare neurodegenerative terminal disease characterized by severe mid-face retraction, renal abnormalities, skull deformities, and other anomalies.
Diagnosis:
There is currently no blood test or genetic test that can specifically diagnose Schinzel-Giedion syndrome. The only diagnostic method available today is physical examination of the affected infant to determine clinical presentations of the disease. However, an ultrasound can be done to identify any kidney defects, and radiologic methods can be used to perceive any skeletal anomalies.
Treatment:
There is no disease-specific treatment for Schinzel-Giedion syndrome. Treatment of affected patients remains largely supportive and unable to reverse the outcome of the disease. Examples of supportive methods include the use of gastrostomy feeding tubes to prevent malnutrition, administering antibiotics to treat urinary tract infections, anti-seizure medications to reduce seizures, as well as other comforts aimed at managing symptoms and improving the patient's quality of life.
Symptoms and Signs:
Infants born with Schinzel-Giedion syndrome typically suffer from severe mental retardation, growth impairment, and developmental delays.
Other symptoms of this complex genetic disorder include: major facial defects in the form of midface retraction; obstruction of the kidneys leading to hydronephrosis; skeletal deformities; excessive bodily hair or hypertrichosis; development of seizures; abnormalities in EEG; and failure to thrive. In addition, affected babies may also have heart problems, respiratory difficulties, and genital abnormalities.
Causes:
Schinzel-Giedion syndrome is believed to be a recessive genetic defect. If both parents are carriers of the defective gene, the disease can affect 3 out of 4 of their children. The specific chromosome that carries the defect has not been identified to date.
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