Warsaw breakage syndrome

Warsaw breakage syndrome is a rare genetic disorder that mainly affects growth, resulting in severe growth retardation and a smaller than expected head size (microcephaly). It is recognized as a new form of cohesinopathy, which means that it involves problems in the process that holds sister chromatids together during cell division. This condition shows unique cytogenetic features that share similarities with those seen in Roberts syndrome and Fanconi anemia.

People with Warsaw breakage syndrome commonly experience severe growth retardation and microcephaly. Additional physical or developmental symptoms have not been extensively detailed in the available information.

The condition is caused by mutations in the DDX11 gene, located on chromosome 12p11. These mutations can be present in both copies of the gene (homozygous) or as different mutations in each copy (compound heterozygous). The defects affect the proper separation of sister chromatids during cell division and make individuals more sensitive to chemicals that cause replication stress.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.