Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by 
heterozygous mutations or deletions of the ZEB2 gene, and characterized by 
typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung 
disease, and multiple congenital anomalies, including genital anomalies 
(particularly hypospadias in males), congenital heart defects, agenesis of the 
corpus callosum, and eye defects. Since the first delineation by Mowat et al. 
[Mowat et al. (1998); J Med Genet 35:617-623], approximately 179 patients with 
ZEB2 mutations, deletions or cytogenetic abnormalities have been reported 
primarily from Europe, Australia and the United States. Genetic defects include 
chromosome 2q21-q23 microdeletions (or different chromosome rearrangements) in 
few patients, and ZEB2 mutations in most. We report on clinical and genetic data 
from 19 Italian patients, diagnosed within the last 5 years, including six 
previously published, and compare them with patients already reported. The main 
purpose of this review is to underline a highly consistent phenotype and to 
highlight the phenotypic evolution occurring with age, particularly of the 
facial characteristics. The prevalence of MWS is likely to be underestimated. 
Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with 
age can improve the detection rate of this condition.