Mowat-Wilson syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by distinct facial features, intellectual disability, and various congenital anomalies. The prevalence of Mowat-Wilson syndrome is estimated to be approximately 1 in 50,000 to 1 in 100,000 individuals.
This syndrome is caused by mutations in the ZEB2 gene, which plays a crucial role in embryonic development. The majority of cases are sporadic, meaning they occur randomly without a family history. However, in some instances, Mowat-Wilson syndrome can be inherited in an autosomal dominant manner.
Individuals with Mowat-Wilson syndrome often experience a wide range of symptoms, including but not limited to, intellectual disability, delayed development, seizures, Hirschsprung disease, heart defects, and genitourinary anomalies. The severity and specific manifestations can vary greatly among affected individuals.
Due to the rarity of Mowat-Wilson syndrome, it is important for healthcare professionals to be aware of its clinical features and genetic basis. Early diagnosis and appropriate management can significantly improve the quality of life for individuals with this syndrome and provide support for their families.