Todd's paresis

Teunissen–Cremers syndrome is a rare genetic disorder characterized by intellectual disability, behavioral problems, and physical abnormalities. The syndrome is named after the Dutch geneticists who first described it, J.P. Teunissen and P.J. Cremers.

Symptoms and Signs

The most common symptoms of Teunissen–Cremers syndrome include intellectual disability, behavioral problems, and various physical abnormalities. These physical abnormalities can include microcephaly (small head size), hypertelorism (widely spaced eyes), strabismus (crossed eyes), and epicanthic folds (skin folds on the inner corner of the eye). Other symptoms can include seizures, autism spectrum disorder, and delayed speech and language development.

Causes

Teunissen–Cremers syndrome is caused by mutations in the KANSL1 gene. This gene provides instructions for making a protein that is involved in regulating other genes. Mutations in the KANSL1 gene disrupt this regulation, leading to the symptoms of Teunissen–Cremers syndrome.

Diagnosis

Diagnosis of Teunissen–Cremers syndrome is based on the presence of characteristic symptoms and confirmed by genetic testing. Genetic testing can identify mutations in the KANSL1 gene that cause the syndrome.

Treatment

There is currently no cure for Teunissen–Cremers syndrome. Treatment is focused on managing symptoms and improving quality of life. This can include physical therapy, occupational therapy, speech therapy, and behavioral therapy. Medications may be used to manage seizures.

Prognosis

The prognosis for individuals with Teunissen–Cremers syndrome varies. Some individuals may have mild symptoms and live independently, while others may require lifelong care.

See also

• KANSL1
• Intellectual disability
• Behavioral problems
• Microcephaly
• Hypertelorism
• Strabismus
• Epicanthic folds
• Seizures
• Autism spectrum disorder
• Delayed speech and language development

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