In 1998, Mowat et al. described a new syndrome, now known as Mowat–Wilson syndrome (MWS), consisting of Hirschsprung disease or severe constipation, microcephaly, mental retardation, and characteristic facial features, including hypertelorism, medially flared and broad eyebrows, prominent columella, pointed chin, and uplifted earlobes.
The prevalence of MWS is currently unknown. However, it seems probable that the syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. Approximately 171 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported and over 100 mutations have been described.
Synonyms and Related Disorders
Hirschsprung disease-mental retardation syndrome; Microcephaly, mental retardation, and distinct facial features with or without Hirschsprung disease
Caused by heterozygous mutations and deletions in the gene ZEB2 on chromosome 2 (also known as ZFHX1B or SIP-1) in approximately 81% of cases
KeywordsPreimplantation Genetic Diagnosis Pyloric Stenosis Chorionic Villus Sampling Germline Mosaicism Facial Phenotype
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