Schinzel–Giedion syndrome (SGS) is a

congenital A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

neurodegenerative A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic ...

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 describes hydrostatic dilation of the renal pelvis and calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dilation of t ...

) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe

mental retardation Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signific ...

, growth retardation (unless fed through a feeding tube) and global developmental delay.

Diagnosis

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

Symptoms

Patients with this can have

seizures An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much 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, also spelled sleep apnoea, is a sleep disorder in which pauses in breathing or periods of shallow breathing during sleep occur more often than normal. Each pause can last for a few seconds to a few minutes and they happen many times ...

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 inflammatory condition of the lung primarily affecting the small air sacs known as alveoli. Symptoms typically include some combination of productive or dry cough, chest pain, fever, and difficulty breathing. The severity ...

cardiac arrest Cardiac arrest is when the heart suddenly and unexpectedly stops beating. It is a medical emergency that, without immediate medical intervention, will result in sudden cardiac death within minutes. Cardiopulmonary resuscitation (CPR) and possib ...

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 an American non-profit organization aiming to provide support for individuals with rare diseases by advocating and funding research, education, and networking among service providers. It wa ...

, the disorder is not inherited from the parents. It is caused by a new spontaneous mutation of the SETBP1 gene. The SETBP1 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 a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It co ...

, 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 fertilization. A male organism cannot reproduce sexually without access to ...

and

females Female (symbol: ♀) is the sex of an organism that produces the large non-motile ova (egg cells), the type of gamete (sex cell) that fuses with the male gamete during sexual reproduction. A female has larger gametes than a male. Females a ...

equally.

References

External links

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