Q: What is Schinzel-Giedion Syndrome (SGS)?
A: SGS is a complex genetic disorder that typically causes: •a major facial defect called midface retraction, •a disorder known as hydronephrosis caused by obstruction and distension in the kidney, •unusual skeletal features, •excessive growth of bodily hair (hypertrichosis), •seizures, •abnormal EEG, •severe mental retardation, and •failure to thrive. There can also be heart problems, genital abnormalities, and spells of interrupted breathing.
Q: What causes SGS?
A: The probable cause is a recessive genetic defect carried by both parents, so that the disease does not show up in the parents and 3 out of 4 of their children (speaking statistically). It is not known what chromosomes carry the defect.
Q: How common is SGS?
A: SGS is an extremely rare disease. We know of several dozen cases worldwide, counting personal knowledge and cases presented in medical articles.
Q: How is SGS diagnosed?
A: There is no genetic or blood test for SGS. Physical examination of the affected infant, looking for the various features of the syndrome, is the only diagnostic method. Ultrasound could be used to detect the kidney defect, and radiologic diagnosis could be used to detect the skeletal abnormalities.
Q: Does early diagnosis help?
A: There is no prevention or cure for SGS, but early diagnosis enables parents to know what to expect and get the help in place that they are going to need. SGS can be a difficult disease to diagnose because of its rarity.
Q: Is there any treatment for SGS?
A: Treatment is only supportive, and cannot affect the outcome of the disorder. Examples of treatment would be gastrostomy feeding tubes to facilitate feeding, antibiotics for the frequent urinary tract infections, anti-seizure medications to subdue the seizures, and comfort measures such as oxygen, tranquilizers, or pain relievers.
Q: What is the usual outcome of SGS?
A: SGS children are profoundly retarded and have many medical problems. The literature states that infants with SGS typically do not live beyond 2 years. However, in our acquaintance with SGS families, we have met some with children that lived a few years beyond the age of 2.
Q: How can I get more information about SGS?
A: Unfortunately, there is currently no national organization for SGS. You can request copies of medical articles listed on this website. For support from other SGS families, you could join the Yahoo! support group. There are messages to be read going back to the year 2000 and several families probably eager to help and support you through this.
Q: What effect should the presence of this disease in one of my children have on my future child-bearing decisions?
A: People with SGS in the family are advised to see a genetic counselor. If the disease is autosomal recessive, as is thought, the chances of it showing up among future births is 1 in 4. Since the chromosome location of the defect is not known, there is no test for it, and it cannot be proved that it is autosomal recessive.
Q: Why is it called Schinzel-Giedion Syndrome?
A: The syndrome was first described in 1978 by Drs. Albert Schinzel and Andreas Giedion in an article published in the American Journal of Medical Genetics. The title of the article was “A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs” but it did not use the name Schinzel-Giedion Syndrome. In 1982 the Journal of Pediatrics published an article titled “Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome”, by Drs. Richard Kelley, Elaine Zackai, and Edward Charney. This was the first published use of the name Schinzel-Giedion Syndrome. Both of these articles are available on this website.
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