Program Operations Manual System (POMS)
TN 53 (08-22)
COMPASSIONATE ALLOWANCES INFORMATION
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MOWAT-WILSON SYNDROME
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ALTERNATE NAMES
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Hirschsprung Disease-Intellectual Disability Syndrome; Mowat-Wilson Disease; MWS |
DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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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:
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Distinctive facial features, including broad, deep-set eyes and prominent, pointed
chin;
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Small head (microcephaly);
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Delayed physical and intellectual development;
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Absent or severely limited speech; and
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Deformities of the genitals and urinary tract.
ICD-9: 756.0
ICD-10: Q87.0; Q43.1
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PROGRESSION
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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.
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TREATMENT
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There is no cure for MWS. Treatment is symptom-specific and supportive. Surgery is
often required to improve function of the heart and intestines.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination reports that describe the diagnostic features of
the impairment; and
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Laboratory tests confirming mutation or absence of the ZEB2 gene.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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112.05
112.14
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Equals
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* 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.
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