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Thread: Mowat-wilson syndrome

  1. #1

    Question Mowat-wilson syndrome

    AAPC: Back to School
    I'm looking for coding assistance on Mowat-Wilson Syndrome. I have not had this before. It is characterized by a number of health defects including Hirschprungs Disease, mental retardation, seizures, delayed growth and motor development, congenital heart disease, genitourinary anomalies, to name a few. In researching this condition, Hirschsprungs disease is not present in all patients with this syndrome. Distinctive features include microcephaly, narrow chin, cupped ears, deep wide set eyes, open mouth, wide nasel bridge and a shortened philtrum.
    The cause of this disorder is an autosomal dominant disorder resulting from new mutations or deletions of the ZFHX1B gene on Chromosome 2q22. So I'm looking in the direction of the 758 category Chromosomal anomalies
    (758.5, 758.32), and then would I code the associated conditions (?) of course hoping to be as specific as possible. If anyone has coded this before, how have you handled it? FYI, my patient does NOT have Hirschprungs...currently. Any help would be appreciated!!
    Thank you!

  2. #2


    I just now got a Mowat Wilson patient, and it IS hard to find info on the Net about it. The most useful site I found was this. http://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome It showed some of the other names used for Mowat Wilson, such as
    [*]Hirschsprung Disease-Mental Retardation Syndrome [*]Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease [*]MWS

    Hope this helps.

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