Berlin breakage syndrome

Berlin Breakage Syndrome is a rare genetic disorder characterized by short stature, an unusually small head size (microcephaly), intellectual disability, and various abnormalities of the skin and skeletal system.

Symptoms

The symptoms of Berlin Breakage Syndrome can vary greatly from person to person. However, common symptoms include microcephaly, short stature, intellectual disability, and various skin abnormalities and skeletal abnormalities. Some individuals may also have immune system problems, leading to frequent infections.

Causes

Berlin Breakage Syndrome is caused by mutations in the NBN gene, which provides instructions for making a protein that is involved in repairing damaged DNA. The NBN gene mutation leads to the production of an abnormally short, nonfunctional version of the NBN protein, preventing cells from repairing damaged DNA effectively. This can lead to cell death, which can contribute to the various signs and symptoms of Berlin Breakage Syndrome.

Diagnosis

Diagnosis of Berlin Breakage Syndrome is based on the presence of characteristic signs and symptoms, including microcephaly, short stature, intellectual disability, and skin and skeletal abnormalities. Genetic testing can confirm a diagnosis by identifying a mutation in the NBN gene.

Treatment

There is currently no cure for Berlin Breakage Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for any immune system problems.

Prognosis

The prognosis for individuals with Berlin Breakage Syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications from the disorder.

See also

• NBN gene
• Microcephaly
• Short stature
• Intellectual disability
• Skin abnormalities
• Skeletal abnormalities

NIH genetic and rare disease info

• NIH info on Berlin breakage syndrome

Berlin breakage syndrome is a rare disease.

Berlin breakage syndrome Resources
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