Mowat-Wilson Syndrome (MWS) is a rare genetic disorder that affects several organs and body systems. Primary symptoms of MWS include severe intellectual impairment, microcephaly, seizures, heart defects, and distinctive facial features. In about half of cases, co-occurs with Hirschsprung Disease, a condition in which the intestines fail to develop properly.

MWS is caused by defects in the ZEB2 gene, which is critical to the development of the nervous system, heart, and other organs and tissues.

Diagnostic testing: An initial diagnosis of MWS is made through observation of the associated physical characteristics and can be confirmed through gene-targeted or comprehensive genomic testing demonstrating dysfunction or complete absence of the ZEB2 gene.

Physical findings:

• •

  Distinctive facial features, including broad, deep-set eyes and prominent, pointed chin;

• •

  Small head (microcephaly);

• •

  Short stature;

• •

  Delayed physical and intellectual development;

• •

  Seizures;

• •

  Absent or severely limited speech; and

• •

  Deformities of the genitals and urinary tract.

ICD-9: 756.0

ICD-10: Q87.0; Q43.1

Symptoms of MWS may present at any time from birth through early adolescence. Early mortality is common, but some people with MWS have survived into early adulthood.

There is no cure for MWS. Treatment is symptom-specific and supportive. Surgery is often required to improve function of the heart and intestines.

Suggested MER for Evaluation:

• •

  Clinical history and examination reports that describe the diagnostic features of the impairment; and

• •

  Laboratory tests confirming mutation or absence of the ZEB2 gene.

Suggested Listings for Evaluation:

REMARKS