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
Severe pre- and postnatal growth retardation
Microcephaly
Intellectual disability
Dysmorphic features
Small and elongated face
Narrow bifrontal diameter
Prominent cheeks
Small nares
Flat philtrum
Relatively large mouth
Bilateral epicanthal folds
High arched palate
Microretrognathism
Coloboma of the optic disc
Strabismus
Cup-shaped ears
Sensorineural deafness
Short neck
Jugular hypoplasia
Cardiac features
Ventricular septal defect
Tetralogy of Fallot
Sketelal features
Clinodactyly of the fifth fingers
Syndactyly of the second and third toes
Small thumbs
Small fibulae
Others
Abnormal skin pigmentation
Single palmar crease

Genetics
This condition is caused by mutations in the DDX11 gene which is located on the short arm of chromosome 12 (12p11).
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
The DDX should be based on the following:
Bloom syndrome
Cornelia de Lange syndrome
Fanconi anemia
Nijmegen breakage syndrome
Roberts syndrome
Xeroderma pigmentosum

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

History
This condition was first described in 2010.


== References ==