Mowat-Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. It results from an autosomal dominant inheritance pattern, typically caused by a de novo loss-of-function mutation or complete deletion of the ZEB2 gene on chromosome 2q22. The disorder impacts multiple systems, including the gastrointestinal tract through Hirschsprung disease, the central nervous system through intellectual disability and epilepsy, the cardiac system through congenital heart disease, and the urogenital system, occurring in approximately 1 in 50,000 to 100,000 births.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. World Health Organization: ICD-10 Version:2019 - Q38-Q45 Other congenital malformations of the digestive system
World Health OrganizationCategory Q43.1Quote, Category Q43.1
Q43.1 Hirschsprung disease
2. Mowat-Wilson syndrome (Wikipedia)
Lead paragraph
Mowat-Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998.
Lead paragraph, history
Mowat-Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998.
Lead paragraph, cause
This condition results from an autosomal dominant inheritance pattern, typically caused by a de novo loss-of-function mutation or complete deletion of the ZEB2 gene.
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