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. 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). Treatment is based on symptoms and consists of palliative care.

Schinzel Giedion syndrome is very rare. To our knowledge, less than 70 affected people have been reported to date.

SETBP1 gene. The mutation is not inherited from a parent - it occurs for the first time in affected people. This is called a de novo mutation. There is nothing either parent can do, or not do, before or during a pregnancy to cause a child to have SGS.

The SETBP1 gene gives the body instructions to make a protein (called SET binding protein 1), which is present in cells throughout the body. However, to our knowledge, the job of this protein is poorly understood and it is not yet known why mutations in this particular gene cause the features of SGS.

Features in children with SGS may include:

• a distinctive facial appearance including a prominent forehead; "flatness" of the middle part of the face (midface retraction); and a short upturned nose
• hydronephrosis
• severe developmental delay and intellectual disability
• skeletal (bone) malformations such as short limbs; valgus or varus foot deformity (the foot is twisted outward or inward, respectively); skull abnormalities; or broad ribs
• genitourinary abnormalities such as undescended testicle(s); abnormally small penis; hypospadias; small uterus; underdeveloped inner and outer labia (folds) of the vagina; or displaced anus
• heart defects such as septal defects (affecting the dividing walls of the heart); valve abnormalities; hypoplastic ventricles (underdeveloped bottom chambers of the heart) or patent ductus arteriosus
• seizures
• visual or hearing impairment
• increased risk of tumors
• excessive hair growth (hypertrichosis)
• nail abnormalities

Because many types of birth defects and complications are associated with SGS, the care of an affected child requires a coordinated approach by a team of various medical and dental specialists. Coordination of care begins when the child is born, and may involve improving airway problems, surgical treatment of hydronephrosis and heart defects, managing feeding intolerance, and seizure prevention and control.

Palliative care is family-centered and focuses on providing relief from the symptoms, pain, and stress of serious illnesses. It is provided by a team of doctors, nurses and other specialists who work together with the other doctors as an extra layer of support. People who are interested in palliative care should ask their doctor about the palliative care services available nearby. Additional resources are available from the National Hospice and Palliative Care Organization and from Get Palliative Care, which also provides a provider directory of hospitals in each state.

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.