Schinzel–Giedion syndrome
Schinzel–Giedion syndrome (pronounced: Shin-zel Gee-dee-on syndrome) is a rare genetic disorder first described by Albert Schinzel and Andreas Giedion in 1978.
Etymology
The syndrome is named after the Swiss pediatricians Albert Schinzel and Andreas Giedion who first described the condition.
Definition
Schinzel–Giedion syndrome is characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations. It is considered an autosomal recessive disorder, which means both copies of the gene in each cell have mutations.
Symptoms
The most common symptoms of Schinzel–Giedion syndrome include Hydronephrosis (swelling of the kidneys), Hypertrichosis (excessive hair growth), and a distinctive facial appearance with midface retraction, heavy eyebrows, and a bulbous nose. Other symptoms may include severe developmental delay, seizures, and skeletal abnormalities.
Causes
Schinzel–Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein that is involved in controlling the activity of other genes. Mutations in the SETBP1 gene disrupt this control, leading to the production of proteins that can cause the characteristic features of Schinzel–Giedion syndrome.
Diagnosis
Diagnosis of Schinzel–Giedion syndrome is based on clinical features, including distinctive facial features, severe developmental delay, and the presence of multiple congenital malformations. Genetic testing can confirm the diagnosis by identifying a mutation in the SETBP1 gene.
Treatment
There is currently no cure for Schinzel–Giedion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for specific symptoms such as seizures and kidney problems.
Prognosis
The prognosis for individuals with Schinzel–Giedion syndrome is generally poor, with most individuals not surviving past childhood due to the severity of their symptoms and complications.
See also
External links
- Medical encyclopedia article on Schinzel–Giedion syndrome
- Wikipedia's article - Schinzel–Giedion syndrome
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