Warsaw breakage syndrome


Warsaw breakage syndrome is a rare genetic condition. Fewer than 10 cases have been reported by 2018.
Its clinical manifestations affect several organ systems.

Presentation

These include
This condition is caused by mutations in the DDX11 gene which is located on the short arm of chromosome 12.
This gene encodes an iron-sulfur containing DNA helicase that belongs to the superfamily 2 of helicases. This protein interacts with the 9-1-1 checkpoint complex protein.
The inheritance pattern is not yet clear.

Diagnosis

The diagnosis may be suspected on clinical grounds and can be confirmed by sequencing the DDX11 gene.

Differential diagnosis

There is no known curative treatment for this condition presently. Management is supportive.

History

This condition was first described in 2010.