Warsaw breakage syndrome

Overview

Type of disease: Genetic, autosomal recessive | Developmental disability (both intellectual and physical disabilities) | Rare conditions

Warsaw breakage syndrome is a condition that includes a variety of problems, most often characterized by mild to severe intellectual disability. Specifically, symptoms include impaired growth from birth leading to short stature and small head size, as well as distinct facial features that include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth, and prominent cheeks. Additionally, individuals often have hearing loss and heart malformations.

Warsaw breakage syndrome is a genetic condition caused by changes in the DDX11 gene. We inherit our genes in pairs, one from each parent typically. Warsaw breakage syndrome is inherited in an autosomal recessive pattern. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.

Doctors diagnose an individual with Warsaw breakage syndrome by evaluating symptoms during pregnancy and after birth. Rarely, genetic testing looking at changes in the DDX11 gene may also be used for diagnosis. Management of Warsaw breakage syndrome is usually focused on treating symptoms that arise.

If you or a family member has been diagnosed with Warsaw breakage syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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