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Diseases

Genetic and Rare Diseases Information Center (GARD)

Schinzel Giedion syndrome


Other Names for this Disease
  • Schinzel Giedion midface-retraction syndrome
  • SGS
  • Schinzel-Giedion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My child has been diagnosed with Schinzel-Giedion syndrome. I have had a very hard time finding information on this syndrome and services for her. Do you have any information on this syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Who is most commonly affected by Schinzel-Giedion syndrome?

Schinzel-Giedion syndrome affects both boys and girls equally. Also patients from diverse ethnicities have been reported in the medical literature, including from European, Japan, and Middle Eastern populations.[4]
Last updated: 1/20/2009

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 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.[5] 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 can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

What facial features are associated with Schinzel-Giedion syndrome in infancy?

Infants with Schinzel-Giedion syndrome often have a prominent forehead, coarse facial features (where face looks thick or swollen), excessive body hair, midface that is retracted (inset), wide sutures, wide spaced eyes, and a short, saddled, upturned nose. Infants may also have a narrowed nasal airway, low set ears, delayed tooth eruption, facial hemangioma, short neck, and redundant skin.
Last updated: 1/20/2009

What facial features are associated with Schinzel-Giedion syndrome in childhood?

Children with Schinzel-Giedion syndrome have coarse facial features, but have less excessive body hair, and the midface retraction becomes less striking.
Last updated: 1/20/2009

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

How does Schinzel-Giedion syndrome affect learning?

Schinzel-Giedion syndrome is associated with severe developmental delays and learning disabilities. MRI’s of children with Schinzel-Giedion syndrome show progressive loss of white brain matter. The condition can also cause hearing loss and severe vision loss.[6][4][7][8]
Last updated: 1/20/2009

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

How can I learn about research involving Schinzel-Giedion syndrome?

The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. While no studies involving Schinzel-Giedion syndrome are listed at this time, there is a study titled 'Studies of Children with Metabolic and Other Genetic Diseases', which is evaluating individuals with known or suspected genetic or metabolic diseases.  To read about this study online, visit the URL below. Review its 'eligibility' criteria to determine its appropriateness.
http://www.clinicaltrials.gov/ct/show/NCT00025870?order=1

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if your daughter is eligible for any clinical trials.

Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov  
Web site: http://clinicalcenter.nih.gov/  

If you are interested in enrolling your daughter in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

Last updated: 1/20/2009

Are there any advocacy organizations for individuals and families with Schinzel-Giedion syndrome?

Additional information and supportive resources for Schinzel-Giedion syndrome can be obtained from the following organization:

The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. You can order a printed report on Schinzel-Giedion syndrome through NORD’s Web site, or by calling or writing the NORD offices.

The link to the page on Schinzel-Giedion syndrome is as follows. You can also access this page by visiting the NORD Web site, clicking on Rare Disease Database, and typing “Schinzel Giedion” in the search box.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Schinzel%20Giedion%20Syndrome

Please note that the first disease report requested by phone or mail is free; there is a charge for subsequent reports. Online, there is no charge to search the database of 2,000 organizations or to read abstracts about the diseases; there is a charge for the full-text disease reports ordered online.

National Organization for Rare Disorders
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll free:  800-999-6673 (voicemail only)
Telephone:  203-744-0100
TDD:        203-797-9590
Fax:        203-798-2291
E-mail:     orphan@rarediseases.org
Web site:   http://www.rarediseases.org/

Last updated: 1/20/2009

References
  • Herenger Y et. al. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. Eur J Med Genet. September, 2015; 58(9):479-487.
  • Marla J. F. O'Neill. SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME. OMIM. May 12, 2011; http://www.omim.org/entry/269150.
  • Albert Schinzel. Schinzel-Giedion syndrome. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798.
  • Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Clinical Report Schinzel-Giedion Syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria. American Journal of Medical Genetics. 2008;
  • SETBP1. Genetics Home Reference. January, 2012; https://ghr.nlm.nih.gov/gene/SETBP1.
  • Minn et al.. Further Clinical and Sensorial Delineation of Schinzel-Giedion Syndrome: Report of Two Cases. American Journal of Medical Genetics. 2002;
  • Rr. P. Labrune. Schinzel-Giedion midface retraction syndrome. Orphanet. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=798. Accessed 10/30/2008.
  • In: Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck, 4th ed. 2001;
Other Names for this Disease
  • Schinzel Giedion midface-retraction syndrome
  • SGS
  • Schinzel-Giedion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.