Schinzel–Giedion syndrome

Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Children with Schinzel–Giedion syndrome have characteristic facial features, neurological problems, severe developmental delay, often bone and organ abnormalities.

Diagnosis

Genetic testing for mutations in SETBP1 gene can confirm a diagnosis. == Symptoms ==

Symptoms

Patients with this can have hydronephrosis, seizures, visual impairments, or alacrima. Sleep apnea may also be present, == Prognosis ==

Prognosis

Most children with condition die before 2 years of age. The longest documented survivor is 15 years old. Children with this condition who survive past infancy have a higher risk of developing tumors. == Causes ==

Causes

According to National Organization for Rare Disorders, the disorder is not inherited from the parents. It is caused by a new spontaneous mutation of the SETBP1 gene. The SETBP1 gene is a cancer promoting gene, and affected children who survive past three years of age are at risk for different types of cancer. == Epidemiology ==

Epidemiology

The exact prevalence of Schinzel-Giedion syndrome is unknown. But, about 50 to 80 cases have been reported in literature. Although the occurrence of this disorder is thought to be higher. According to Orphanet, the condition occurs in 1 in 1 million people. The condition affects both males and females equally. ==See also==

Source: Wikipedia ↗

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