Schinzel syndrome

Schinzel syndrome, also known as Schinzel-Giedion syndrome, is a rare genetic disorder characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations. The syndrome was first described by the Swiss pediatrician Albert Schinzel and his colleague Andreas Giedion in 1978.

Symptoms and Signs

The most common symptoms of Schinzel syndrome include severe intellectual disability, distinctive facial features such as a prominent forehead, widely spaced eyes (hypertelorism), a short nose with a broad tip, and a small chin (micrognathia). Other features may include hearing loss, vision problems, seizures, and various skeletal abnormalities. Many affected individuals also have heart defects, kidney abnormalities, and genital malformations.

Causes

Schinzel 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 are not functional or are harmful.

Diagnosis

Diagnosis of Schinzel syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the SETBP1 gene.

Treatment

There is currently no cure for Schinzel syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, special education, and medications to control seizures.

Prognosis

The prognosis for individuals with Schinzel syndrome is generally poor, with most affected individuals not surviving past infancy or early childhood. However, some individuals with milder forms of the disorder have lived into adulthood.

See Also

• Genetic disorders
• Intellectual disability
• Congenital malformations

NIH genetic and rare disease info

• NIH info on Schinzel syndrome

Schinzel syndrome is a rare disease.

Schinzel syndrome Resources
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