Warsaw breakage syndrome

Warsaw breakage syndrome is a rare genetic condition. Fewer than 10 cases have been reported by 2018.[2]

Warsaw breakage syndrome
Other namesWABS[1]

Its clinical manifestations affect several organ systems.

Presentation

These include[3]

  • 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

Treatment

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

History

This condition was first described in 2010.[4]

References
  1. "OMIM Entry - # 613398 - WARSAW BREAKAGE SYNDROME; WABS". omim.org. Retrieved 29 October 2019.
  2. 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
  3. Pisani FM (2019) Spotlight on Warsaw Breakage Syndrome. Appl Clin Genet 12:239-248
  4. 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
Classification
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