Naxos syndrome

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Naxos Syndrome

Naxos Syndrome (pronounced: năk-sŏs sĭn-drōm) is a rare, autosomal recessive genetic disorder that primarily affects the skin, heart, and hair. The syndrome is named after the Greek island of Naxos, where it was first identified.

Etymology

The term "Naxos Syndrome" is derived from the Greek island of Naxos, where the condition was first identified in the 1980s. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse of many".

Symptoms

Naxos Syndrome is characterized by three main symptoms: woolly hair, palmoplantar keratoderma (thickening of the skin on the palms and soles), and cardiomyopathy (disease of the heart muscle).

Causes

Naxos Syndrome is caused by mutations in the genes DSP (Desmoplakin) and JUP (Junction Plakoglobin). These genes provide instructions for making proteins that are found in desmosomes, structures that help attach cells to one another.

Diagnosis

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

Treatment

There is currently no cure for Naxos Syndrome. Treatment is focused on managing the symptoms and preventing complications, particularly those related to the heart.

Related Terms

See Also

External links

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