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Schinzel Giedion Syndrome

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Copyright 1993, 2003

Synonyms of Schinzel Giedion Syndrome

Disorder Subdivisions

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.

Related Disorders

Symptoms of the following disorders can be similar to those of Schinzel- Giedion Syndrome. Comparisons may be useful for a differential diagnosis:

Mucopolysaccharidosis (MPS) is a group of hereditary disorders of lysosomal storage. These diseases are characterized by an abnormal accumulation of mucopolysaccharides, especially in the cartilage and bone tissue. Symptoms of this disorder may include: abnormally slow growth and mental retardation; vision and hearing problems; stiff joints; an excess of hair; dwarfism; and/or heart and breathing problems. (For more information on this disorder, choose "Mucopolysaccharidosis" as your search term in the Rare Disease Database.)

The following disorders may be associated with Schinzel-Giedion Syndrome as secondary characteristics. They are not necessary for a differential diagnosis:

Infantile Apnea is characterized by the temporary, but recurrent cessation of breathing during sleep. Cyanosis (bluish discoloration of the skin and mucous membranes around the mouth and nose) as well as bradycardia (a pulse rate of less than 60 per minute) are also present. The cause of this disorder is not known. (For more information on this disorder choose "Infantile Apnea" as your search term in the Rare Disease Database.)

Atrial Septal Defects are a relatively common form of congenital heart disease. The septum separating the two atria is incompletely formed before birth and the opening persists. This can result in inefficient distribution of oxygen to the various tissues of the body, heart failure characterized by edema, difficulty breathing, fatigue, and other cardiovascular disturbances. Symptoms tend to be mild at first, so that the defect is sometimes not recognized until later in life. (For more information on this disorder choose "Atrial Septal Defects" as your search term in the Rare Disease Database.)

Epilepsy is a central nervous system disorder that is characterized by a sudden, aimless, uncontrollable discharge of electrical energy in the brain. This discharge is sometimes preceded by a strange feeling (aura) and is characterized by a convulsion and/or loss of consciousness. (For more information on this disorder choose "Epilepsy" as your search term in the Rare Disease Database.)

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 www.clinicaltrials.gov. 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
Email: prpl@cc.nih.gov

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

Schinzel Giedion Syndrome Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:


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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.

Report last updated: 2008/03/04 00:00:00 GMT+0