Schinzel–Giedion syndrome (SGS) is a

congenital A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

neurodegenerative A neurodegenerative disease is caused by the progressive loss of neurons, in the process known as neurodegeneration. Neuronal damage may also ultimately result in their death. Neurodegenerative diseases include amyotrophic lateral sclerosis, mul ...

terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (

hydronephrosis Hydronephrosis is the hydrostatic dilation of the renal pelvis and Renal calyx, calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dila ...

) and other anomalies. Children with Schinzel–Giedion syndrome have characteristic facial features, neurological problems, severe developmental delay, often bone and organ abnormalities.

Diagnosis

Genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...

for mutations in ''SETBP1'' gene can confirm a diagnosis.

Symptoms

Patients with this can have

seizures A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, o ...

, visual impairments, or

alacrima Alacrima refers to an abnormality in tear production that could mean reduced tear production or absent tear production. Because a lack of tears presents in only in a few rare disorders, it aids in diagnosis of these disorders, including Triple-A s ...

Sleep apnea Sleep apnea (sleep apnoea or sleep apnœa in British English) is a sleep-related breathing disorder in which repetitive Apnea, pauses in breathing, periods of shallow breathing, or collapse of the upper airway during sleep results in poor vent ...

may also be present,

Prognosis

Most children with condition die before 2 years of age. With it being estimated that 50% will die before 2 years of age. Death during infancy is due to

pneumonia Pneumonia is an Inflammation, inflammatory condition of the lung primarily affecting the small air sacs known as Pulmonary alveolus, alveoli. Symptoms typically include some combination of Cough#Classification, productive or dry cough, ches ...

cardiac arrest Cardiac arrest (also known as sudden cardiac arrest CA is when the heart suddenly and unexpectedly stops beating. When the heart stops beating, blood cannot properly Circulatory system, circulate around the body and the blood flow to the ...

tumors A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...

, lung hypoplasia, or

. The longest documented survivor is 15 years old. Children with this condition who survive past infancy have a higher risk of developing tumors.

Causes

According to

National Organization for Rare Disorders The National Organization for Rare Disorders (NORD) is a nonprofit organization, based in Connecticut, aiming to provide support for individuals with rare diseases by advocating and funding research, education, and networking among service pro ...

, the disorder is not inherited from the parents. It is caused by a new spontaneous mutation of the

SETBP1 SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene. Gene The gene is located on Chromosome 18, specifically on the long (q) arm of the chromosome at position 12.3. This is also written as 18q12.3. Function The ...

gene. The

gene is a cancer promoting gene, and affected children who survive past three years of age are at risk for different types of cancer.

Epidemiology

The exact prevalence of Schinzel-Giedion syndrome is unknown. But, about 50 to 80 cases have been reported in literature. Although the occurrence of this disorder is thought to be higher. According to

Orphanet Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks. Orphanet was founded in France in 1997 by Inserm, the French National Institute of H ...

, the condition occurs in 1 in 1 million people. The condition affects both

males Male (symbol: ♂) is the sex of an organism that produces the gamete (sex cell) known as sperm, which fuses with the larger female gamete, or ovum, in the process of fertilisation. A male organism cannot reproduce sexually without access to ...

and

females An organism's sex is female (symbol: ♀) if it produces the ovum (egg cell), the type of gamete (sex cell) that fuses with the male gamete (sperm cell) during sexual reproduction. A female has larger gametes than a male. Females and male ...

equally.

References

External links

OMIM entry on Schinzel–Giedion midface retraction syndrome
{{DEFAULTSORT:Schinzel-Giedion syndrome Nucleus diseases Syndromes with intellectual disability