Simpson–Golabi–Behmel syndrome

The Simpson - Golabi - Behmel syndrome ( SGBS, also Golabi -Rosen syndrome ) is a rare genetic disease that is inherited as an X -linked recessive. Overall, slightly more than 100 cases have been reported until 2006.

The spectrum of clinical changes is complex and highly variable. It ranges from small changes in heterozygous affected females up to early infantile lethal forms of male victims. Male sufferers are typically very large, have a macrocephaly and a flaccid muscle tone. Cognitive development is usually normal, congenital heart defects occur frequently. There is an increased risk of cancer in childhood, especially with increased Wilms' tumors.