What Is Berlin Syndrome?

Berlin syndrome is a rare genetic condition. It is caused by a mutated gene that is not able to provide adequate protection from chromosome breakage, which can damage the deoxyribonucleic acid (DNA) inside. This can cause a wide array of problems, from increased sensitivity to external elements to physical deformities and mental impairment. It is also known as Nijmegen breakage syndrome and Seemanova syndrome.

The condition develops when the mutated gene causes a deficiency of the protein nibrin. When a chromosome breaks, nibrin is a key element in repairing the damage. Without this resource, the chromosomes will rearrange themselves, which can affect the function of the DNA within them. Berlin syndrome is typically the result of certain types of chromosomes breaking and grouping together in an abnormal way, such as those which help build the immune system.

The symptoms of Berlin syndrome are often the direct result of an individual lacking the resources to manage the chromosome breakage and thus properly develop or heal the body. Hypersensitivity to radiation is a common trait, because the body is not able to build up the cells that have been broken by the exposure. Many patients with the syndrome also have a weak immune system and are highly susceptible to infection.

One of the most distinctive physical effects of Berlin syndrome is microcephaly. This is a condition in which an individual’s head is significantly smaller than the standard size for a person of the same age. As with the other symptoms of the syndrome, this develops early in life or is present at birth.

Some of the other physical characteristics of Berlin syndrome include a deeply sloping forehead, short stature, and abnormalities in skin pigmentation. The condition can cause mental retardation and learning disabilities as well. Patients with the condition are also at a higher risk of getting lymphoma, leukemia, and other types of cancer. Overall, a person with Berlin syndrome will typically have a shorter life span than those without the condition.

Many general practitioners can refer people who feel they may pass on the gene that causes Berlin syndrome to a genetic counselor. This process can help patients understand what risks are involved in having a child and potentially passing on the gene. A genetic counselor can also discuss options for treatment. Potential candidates for counseling include individuals who already have or suspect they have the disease and who may be carrying the gene.