Mowat–Wilson syndrome

Mowat–Wilson syndrome
Other namesHirschsprung disease-intellectual disability syndrome
Mowat–Wilson syndrome, clinical features of Patient 2 at age: (A) 1 year and 6 months; (B–C) 3 years and 5 months; (D–E) 8 years and 1 month.
Differential diagnosisSmith Lemli Opitz syndrome, Angelman syndrome, Goldberg Shprintzen megacolon syndrome
TreatmentSupportive care

Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000–100,000 births.

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