Mowat-Wilson syndrome

Last revised by Dr Yuranga Weerakkody on 12 Mar 2022

Mowat-Wilson syndrome is a rare disorder with a broad spectrum of congenital anomalies. It is caused by an abnormality in the ZFHX1B gene. Anomalies that may be recognized at birth or 1st year of life include:

  • CNS
    • seizures
    • intellectual disability
    • distinct facial profile 
  • genitourinary abnormalities
    • renal abnormalities
    • male genital abnormalities
  • Hirschsprung disease
  • heart (cardiac) defects
  • short stature

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