Warsaw breakage syndrome

Warsaw breakage syndrome is a rare genetic condition. Fewer than 10 cases have been reported by 2018.^[1]

Its clinical manifestations affect several organ systems.

Genetics[edit | edit source]

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.

Clinical features[edit | edit source]

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

Differential diagnosis[edit | edit source]

Diagnosis[edit | edit source]

The diagnosis may be suspected on clinical grounds and can be confirmed by sequencing the DDX1 gene.

Treatment[edit | edit source]

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

History[edit | edit source]

This condition was first described in 2010.^[2] Portions of content adapted from Wikipedia's article on Warsaw breakage syndrome which is released under the CC BY-SA 3.0.

↑ Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D (2018) Warsaw breakage syndrome: Further clinical and genetic delineation. Am J Med Genet A doi: 10.1002/ajmg.a.40482
↑ van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP (2010) Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am J Hum Genet 86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008

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[1] Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D (2018) Warsaw breakage syndrome: Further clinical and genetic delineation. Am J Med Genet A doi: 10.1002/ajmg.a.40482

[vanderLelij2010-2] van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP (2010) Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am J Hum Genet 86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008

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