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Schinzel Giedion syndrome


Other Names for this Disease
  • Schinzel Giedion midface-retraction syndrome
  • Schinzel-Giedion syndrome
  • SGS
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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 is a rare genetic syndrome. Common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance.[1][2][3] Recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children.[4] The underlying genetic defect that causes the condition has not yet been identified.
Last updated: 1/20/2009

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. There have been less than 50 cases reported in the medical literature.[4]
Last updated: 1/20/2009

What causes Schinzel-Giedion syndrome?

The cause of Schinzel-Giedion syndrome remains unknown. The syndrome is thought to be due to a genetic defect. Some have speculated that the genetic defect results in an impairment of a enzyme or metabolic pathway, however no metabolic abnormalities have been identified despite extensive testing.[4] The mode of inheritance also remains unclear, but autosomal recessive or autosomal dominant inheritance is likely.

Autosomal recessive inheritance is when two mutated copies of the gene that causes a disorder are present in each cell. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every generation of an affected family. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will be affected.[5]

Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions can be inherited from an affected parent or occur for the first time in a family as a de novo or “new” mutation. De novo mutations occur randomly for the first time in the patient.

 

Last updated: 1/20/2009

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: 10/18/2013

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?

Symptoms that have been reported in children with Schinzel-Giedion syndrome are listed below.  Please note that the presence and severity of these symptoms and birth defects can vary from child to child. Children with Schinzel-Giedion syndrome may also have other symptoms that are not mentioned here.[1][4][2][3]

Skin:   Underdeveloped nipples, transverse palmar creases, and nails that are very arched.

Genitourinary anomalies: hydronephrosis, hypospadias, short penis, deep interlabial sulcus

Heart: Heart defects, such as atrial septal defects, are not uncommon.

Tumors: Embryonic tumors, such as teratoma and neuroectodermal tumors, have been reported

Bone:  Wide space between the eye orbits, a short steep skull base, a wide occipital synchondrosis, undermineralization of the skull, an unexpected skull bone pattern (i.e., Wormian bones), broad ribs, mildly shortened limbs, bowed tibia (long bone between the knee and the foot), long collar bones, underdevelopment of bones in the hands and writs, thick shafts of the long bones, underdevelopment of the pubic bones, and
club foot.

Brain: Enlarged ventricles, ventricular dilatation, underdeveloped corpus callosum, periventricular leukomalacia, brain atrophy (wasting), and arachnoid cysts.

Other: seizures, episodes of stopped breathing

Last updated: 1/20/2009

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.[1][4][2][3]
Last updated: 1/20/2009

What is the life expectancy for a child with Schinzel-Giedion syndrome?

Schinzel-Giedion syndrome is a life threatening disorder and many children do not survive past early childhood. The longest reported survival was to adolescence.  Pneumonia, respiratory failure, and infections are common complications of Schinzel-Giedion syndrome that can become life-threatening.[1][4][2][3]
Last updated: 1/20/2009

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
  • 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;
  • 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;
  • What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.