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
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 ...
,
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
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 ...
.
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
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 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.
See also
* ''
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 ...
''
References
External links
OMIM entry on Schinzel–Giedion midface retraction syndrome
{{DEFAULTSORT:Schinzel-Giedion syndrome
Nucleus diseases
Syndromes with intellectual disability