Saito-Kuba-Tsuruta syndrome

Saito-Kuba-Tsuruta syndrome is a rare genetic disorder characterized by a combination of physical and neurological abnormalities. The syndrome was first described by the Japanese researchers Saito, Kuba, and Tsuruta in the late 20th century.

Symptoms and Signs

The symptoms of Saito-Kuba-Tsuruta syndrome vary widely among affected individuals. Common symptoms include intellectual disability, seizures, microcephaly (small head size), and hypotonia (low muscle tone). Some individuals may also have autism spectrum disorder or other behavioral disorders. Physical abnormalities can include distinctive facial features, short stature, and skeletal abnormalities.

Causes

Saito-Kuba-Tsuruta syndrome is a genetic disorder, which means it is caused by changes (mutations) in one or more genes. However, the specific genes associated with this syndrome have not yet been identified. It is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of Saito-Kuba-Tsuruta syndrome is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Saito-Kuba-Tsuruta syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to control seizures.

Prognosis

The prognosis for individuals with Saito-Kuba-Tsuruta syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have a shortened lifespan due to complications of the disorder.

See Also

• List of genetic disorders
• Autosomal recessive inheritance
• Intellectual disability
• Seizures

NIH genetic and rare disease info

• NIH info on Saito-Kuba-Tsuruta syndrome

Saito-Kuba-Tsuruta syndrome is a rare disease.

Saito-Kuba-Tsuruta syndrome Resources
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