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:
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CNS
seizures
intellectual disability
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distinct facial profile
ocular hypertelorism, broad eyebrows, open mouth expression, prominent chin 2
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genitourinary abnormalities
renal abnormalities
male genital abnormalities
heart (cardiac) defects
Pathology
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.