Mowat-Wilson syndrome

Last revised by Rohit Sharma on 3 Aug 2023

Mowat-Wilson syndrome is a rare disorder with a broad spectrum of congenital anomalies.

Clinical presentation

Anomalies that may be recognized at birth or in the first year of life include:

  • CNS

    • seizures

    • intellectual disability

  • distinct facial profile 

    • ocular hypertelorism, broad eyebrows, open mouth expression, prominent chin 2

  • genitourinary abnormalities

    • renal abnormalities

    • male genital abnormalities

  • Hirschsprung disease

  • heart (cardiac) defects

  • short stature


Mowat-Wilson syndrome is an autosomal dominant condition caused by an variant in the ZEB2 gene. This variant could be either a heterzygous deletion (2q22.3) or a chromosomal rearrangement affecting the ZEB2 gene 2.

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