Tsukuhara syndrome

Tsukuhara Syndrome

Tsukuhara Syndrome (pronunciation: tsoo-koo-ha-ra sin-drome) is a rare genetic disorder characterized by a range of physical and developmental abnormalities.

Etymology

The syndrome is named after the Japanese physician, Dr. Tsukuhara, who first described the condition in the medical literature.

Definition

Tsukuhara Syndrome is a genetic disorder that affects multiple systems in the body. It is characterized by a range of symptoms including intellectual disability, growth retardation, and distinctive facial features. The syndrome is extremely rare, with only a few cases reported in the medical literature.

Symptoms

The symptoms of Tsukuhara Syndrome can vary greatly from person to person. However, common symptoms include:

Intellectual disability
Growth retardation
Distinctive facial features such as a prominent forehead, wide-set eyes, and a small jaw
Skeletal abnormalities
Heart defects

Causes

Tsukuhara Syndrome is caused by mutations in a specific gene. The exact gene is currently unknown, but it is believed to be an autosomal recessive trait, meaning both parents must carry the mutated gene to pass it on to their child.

Diagnosis

Diagnosis of Tsukuhara Syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Tsukuhara Syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, special education, and treatment for any heart defects or other health problems.

Related Terms

External links

Medical encyclopedia article on Tsukuhara syndrome
Wikipedia's article - Tsukuhara syndrome

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Tsukuhara syndrome