Schinzel Giedion syndrome
- Schinzel Giedion midface-retraction syndrome
- Schinzel-Giedion syndrome
Your QuestionMy 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is Schinzel Giedion syndrome?
- Who is most commonly affected by Schinzel-Giedion syndrome?
- How rare is Schinzel Giedion syndrome?
- What causes Schinzel Giedion syndrome?
- How can I find a genetics professional in my area?
- What facial features are associated with Schinzel-Giedion syndrome in infancy?
- What facial features are associated with Schinzel-Giedion syndrome in childhood?
- What are the signs and symptoms of Schinzel-Giedion syndrome?
- How does Schinzel-Giedion syndrome affect learning?
- What is the long-term outlook for children with Schinzel Giedion syndrome?
- How can I learn about research involving Schinzel-Giedion syndrome?
- Are there any advocacy organizations for individuals and families with Schinzel-Giedion syndrome?
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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
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
- 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
- visual or hearing impairment
- increased risk of tumors
- excessive hair growth (hypertrichosis)
- nail abnormalities
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
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.
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.
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.
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)
Web site: http://www.rarediseases.org/
- 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;