Schinzel Giedion syndrome

Disease Overview

Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. Affected children usually do not survive beyond a few years after birth.[11549] SGS is caused by a mutation in the SETBP1 gene. The mutation is not inherited from a parent, but occurs for the first time in the affected child (a de novo mutation).[11550] Treatment is based on symptoms and consists of palliative care.[11551]

Synonyms

• Schinzel Giedion midface-retraction syndrome
• SGS
• Schinzel-Giedion syndrome