Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome, abbreviated SGBS, is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac and renal abnormalities. It carries a notably high prevalence of cancer, including Wilms tumor, neuroblastoma, and tumors of the adrenal gland, liver, lungs and other abdominal organs. It follows an X-linked recessive inheritance pattern: females who carry a single mutated copy are generally considered carriers, though they can still show symptoms ranging from mild to severe, while affected males face an increased risk of fetal death. It is associated with mutations in the GPC3 and OFD1 genes and falls under medical genetics. It is also known by several other names, including Golabi-Rosen syndrome, Simpson dysmorphia syndrome and X-linked dysplasia gigantism syndrome.