Warsaw breakage syndrome

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Warsaw Breakage Syndrome (pronunciation: Waw-saw Bray-kij Sin-drome) is a rare genetic disorder characterized by growth retardation, microcephaly, intellectual disability, and distinctive facial features. The syndrome is named after the city of Warsaw, Poland, where the first case was identified.

Etymology

The term "Warsaw Breakage Syndrome" is derived from the city of Warsaw, where the syndrome was first identified, and "breakage" refers to the chromosomal instability observed in individuals with this condition.

Symptoms

The primary symptoms of Warsaw Breakage Syndrome include growth retardation, microcephaly (small head size), intellectual disability, and distinctive facial features such as a prominent nose and deep-set eyes. Other symptoms may include sensorineural hearing loss, congenital heart defects, and skin abnormalities.

Causes

Warsaw Breakage Syndrome is caused by mutations in the DDX11 gene. This gene provides instructions for making an enzyme that is involved in DNA replication and repair. Mutations in the DDX11 gene disrupt the normal function of this enzyme, leading to chromosomal instability and the symptoms of Warsaw Breakage Syndrome.

Diagnosis

Diagnosis of Warsaw Breakage Syndrome is based on clinical features, genetic testing, and laboratory findings. Genetic testing can identify mutations in the DDX11 gene, confirming the diagnosis.

Treatment

There is currently no cure for Warsaw Breakage Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational support, and management of any associated medical conditions.

See also

External links

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