TN 53 (08-22)

DI 23022.457 Mowat-Wilson Syndrome

COMPASSIONATE ALLOWANCES INFORMATION

MOWAT-WILSON SYNDROME

ALTERNATE NAMES

Hirschsprung Disease-Intellectual Disability Syndrome; Mowat-Wilson Disease; MWS

DESCRIPTION

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, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

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

PROGRESSION

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.

TREATMENT

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 PROGRAMMATIC ASSESSMENT*

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:

DETERMINATION

LISTING

REMARKS

Meets

112.05

112.14

 

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.


To Link to this section - Use this URL:
http://policy.ssa.gov/poms.nsf/lnx/0423022457
DI 23022.457 - Mowat-Wilson Syndrome - 08/10/2022
Batch run: 08/10/2022
Rev:08/10/2022