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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
NIH genetic and rare disease info[edit source]
Saito-Kuba-Tsuruta syndrome is a rare disease.
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