The following information may help to address your question:
What is Schinzel Giedion syndrome?
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.
[1] 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).
[2] Treatment is based on symptoms and consists of
palliative care.
[3]
Last updated: 5/23/2016
How rare is Schinzel Giedion syndrome?
Schinzel Giedion syndrome is very rare. To our knowledge, less than 70 affected people have been reported to date.
[1]
Last updated: 5/23/2016
What are the signs and symptoms of Schinzel-Giedion syndrome?
The signs and symptoms of Schinzel Giedion syndrome (SGS) are present from birth (
congenital). The specific features can vary among affected children, but are generally severe. Recurrent infections and
respiratory failure are common, and most children with SGS do not live beyond a few years after birth.
[1]
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[3]
- hydronephrosis
- severe developmental delay and intellectual disability[3][1]
- 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[3][1]
- 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[3]
- 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[3]
- seizures[3]
- visual or hearing impairment[3]
- increased risk of tumors[3]
- excessive hair growth (hypertrichosis)[3]
- nail abnormalities[3]
Last updated: 5/24/2016
What causes Schinzel Giedion syndrome?
Schinzel Giedion syndrome (SGS) is caused by having a
mutation in one copy of the
SETBP1 gene. The mutation is not inherited from a parent - it occurs for the first time in affected people.
[3][2] 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.
[4] 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.
Last updated: 5/24/2016
How might Schinzel Giedion syndrome be treated?
Unfortunately there is no cure for Schinzel Giedion syndrome (SGS). Treatment is supportive, aiming to address individual signs and symptoms, and consists of
palliative care.
[3]
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.
[3][5]
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.
[6] 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.
Last updated: 5/24/2016
What is the long-term outlook for children with Schinzel Giedion syndrome?
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.
[3]
Last updated: 5/24/2016
Where can I find additional information about Schinzel Giedion syndrome?
You can find articles about Schinzel Giedion syndrome through
PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "Schinzel Giedion syndrome" as your search term should help you locate articles.
Click here to view our sample search for this condition.
The National Library of Medicine (NLM) can help you find libraries in your area where you can get the full text of medical articles. The webpage also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can search for libraries at the following link:
http://nnlm.gov/members/. You can also contact the NLM toll-free at 1-888-346-3656.
We also encourage you to view our "
How to Find a Disease Specialist" fact sheet. This fact sheet may help you locate healthcare professionals or researchers who have knowledge about Schinzel Giedion syndrome.
Last updated: 5/24/2016
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GARD Information Specialist
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