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Warsaw breakage syndrome (WBRS)

Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS). It is a syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities.
At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist.

OTHER NAME(S): WBR syndrome
WBRS syndrome

ABREVIATION(S):
WBRS

TYPE: microcephaly, skin problem, chromosomal instability, facial anomalies, growth retardation, deafness (hearing impairment)

Related patway(s): DNA replication

DNAtraffic protein(s) related to disease: helicase DDX11 (CHLR1)

OMIM: 613398

Last modification date: Feb. 15, 2012