Schinzel Giedion Syndrome

National Organization for Rare Disorders, Inc.

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  • Schinzel-Giedion Midface-Retraction Syndrome

Disorder Subdivisions

  • None

General Discussion

Schinzel-Giedion Syndrome is a very rare disorder with characteristic facial features, skeletal abnormalities, and obstruction of the tube that carries urine from the kidney to the bladder (ureter). This obstruction may lead to enlarged and damaged kidneys (hydronephrosis). Symptoms characteristic of Schinzel-Giedion syndrome also include excessive hair-growth (hypertrichosis), a flat midface (midface retraction), seizures, clubfeet, broad ribs, mental retardation, and short arms and legs.


Schinzel-Giedion Syndrome is a very rare disorder characterized by an unusual facial appearance as well as abnormalities of the skeleton, kidney, hair and brain. Individuals with this disorder have an obstruction of the tube that carries urine from the kidney into the bladder (ureter). This causes the kidney to become swollen as urine accumulates (hydronephrosis).

Failure to grow and develop normally becomes apparent at an early age. Excessive growth of hair as well as widely spaced eyes, a flat midface, low-set ears, a short low-set nose, and a short and wide neck with an excess of skin are typical features of individuals with Schinzel-Giedion Syndrome.

Abnormalities of the skeleton include widely spaced openings between the bones of the skull (patent fontanelles), and short lower arms and legs. Other skeletal signs may include clubfoot and broad ribs.

Sudden, aimless, uncontrollable discharge of electrical energy in the brain causing convulsions and/or loss of consciousness (epileptic seizures) has been found in most patients with this disorder.

Visual and hearing problems as well as mental retardation are also found in patients with Schinzel-Giedion Syndrome. A sleep disorder in which there is cessation of breathing during sleep (sleep apnea) may also be present.

Other symptoms found in some patients with Schinzel-Giedion Syndrome may include a high forehead that protrudes outward, a large tongue (macroglossia), delayed eruption of teeth, a narrow passage between the nose and throat (choanal stenosis), underdeveloped nipples, abnormal nails of the fingers and toes, extra fingers and/or toes, a clubfoot, a short penis, failure of the testicles to descent into the scrotum (cryptorchidism), and/or a deep depression in the fold of skin at the opening of the vagina (interlabial sulcus).

A common form of heart disease characterized by an abnormal opening between the two atria chambers of the heart (atrial septal defect) has also been found in the majority of reported cases of Schinzel-Giedion Syndrome.


Most cases occur randomly (sporadic), but if the parents are very closely related (consanguineous), the disorder may be transmitted as an autosomal recessive trait.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Schinzel-Giedion Syndrome is a very rare disorder that affects males and females in equal numbers. There have been between twenty and twenty-four cases of this disorder reported in the medical literature.

Standard Therapies

When hydronephrosis is present in patients with Schinzel-Giedion Syndrome, temporary drainage of the urine may be necessary. Surgery may be indicated when kidney function is compromised, pain and/or infection occur.

The definitive treatment for atrial septal defects is surgical. The hole in the septum is either sutured shut, or patched with a graft. The success rate is quite high. In ostim primum (endocardial cushion) defects, the atrioventricular valves may have to be repaired or replaced; the success rate is substantially lower in these more complex operations.

Anti-convulsant drugs such as carbamazepine, valproic acid, phenobarbital, clonazepam, ethusuximide, primidone, phenytoin, corticotropin, and corticosteroid drugs are being used to help prevent and control seizures associated with Epilepsy.

Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:



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Minn D, Christmann D, De Saint-Martin A, et al. Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. Am J Med Genet. 2002;109:211-17.

Touge H, Fujinaga T, Okuda M, et al. Schinzel-Giedion Syndrome. Int J Urol. 2001;8:237-41.

Labrune P, Lyonnet S, Zupan V, et al. Three new cases of Schinzel-Giedion syndrome and review of the literature. Am J Med Genet. 1994;50:90-93.


Joss S, Dean JC. A Schinzel-Giedion-like Syndrome - a milder version or a separate condition? Clin Dysmorphol. 2002;11:271-75.

Kondoh T, Kamimura N, Tsuru A, et al. A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. Pediatr Int. 2001;43:181-84.

Rittinger O, Weiss-Wiehart P, Hasenohrl G. Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. Clin Dysmorphol. 1999;8:291-93.

Maclennan AC, Doyle D, Simpson RM. Neurosonography and pathology in the Schinzel-Giedion syndrome. J Med Genet. 1991;28:547-49.


McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 269150: Last Edit Date; 2/20/2002.

Multiple Congenital Anomaly/Mental Retardation (MCA?MR) Syndromes. Schinzel-Giedion syndrome (SGS). United States National Library of Congress. nd. 2pp.

Labrune P. Schinzel-Giedion midface retraction syndrome. Orphanet. November 2001.

Balke DL. Seizures or epilepsy. Pediatric Services. nd:6pp.


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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see