Mowat-Wilson syndrome

Last revised by Rohit Sharma ◉ on 3 Aug 2023

Citation, DOI, disclosures and article data

Citation:

Iqbal S, Sharma R, Lim L, et al. Mowat-Wilson syndrome. Reference article, Radiopaedia.org (Accessed on 29 Sep 2023) https://doi.org/10.53347/rID-98044

DOI:

https://doi.org/10.53347/rID-98044

Permalink:

https://radiopaedia.org/articles/98044

rID:

98044

Article created:

11 Mar 2022, Subhan Iqbal

Disclosures:

At the time the article was created Subhan Iqbal had no recorded disclosures.

View Subhan Iqbal's current disclosures

Last revised:

3 Aug 2023, Rohit Sharma ◉

Disclosures:

At the time the article was last revised Rohit Sharma had no financial relationships to ineligible companies to disclose.

View Rohit Sharma's current disclosures

Revisions:

6 times, by 5 contributors - see full revision history and disclosures

Systems:

Paediatrics

Sections:

Syndromes

Tags:

re-write, cases

Synonyms:

Mowat Wilson syndrome

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 firstyear 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

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.