Schinzel Giedion syndrome (SGS)
Schinzel Giedion syndrome (SGS) is a very rare genetic disorder with characteristic facial features, skeletal abnormalities, and obstruction of the tube that carries urine from the kidney to the bladder (ureter). This obstruction may lead to enlarged and damaged kidneys (hydronephrosis). Symptoms characteristic of SGS also include excessive hair-growth (hypertrichosis), a flat midface (midface retraction), seizures, clubfeet, broad ribs, profound intellectual disability and short arms and legs. SGS is caused by a new mutation in the SETBP1 gene that is not inherited from the parents. SGS is a severe progressive syndrome and most affected individuals do not survive infancy.
Schinzel Giedion syndrome (SGS) is a life-threatening disorder. Most children with SGS do not live past infancy or early childhood due to progressive neurodegeneration, recurrent infections and respiratory failure. Few children survive longer, although survival to adolescence has been reported.