Medical Definition of Mowat-Wilson syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Reviewed on 9/7/2018

Mowat-Wilson syndrome: a genetic (inherited) condition present at birth that features square-shaped face with deep-set, widely spaced eyes, a broad nasal bridge, pointed chin, uplifted earlobes, intellectual disability,the intestinal disorder Hirschsprung disease, small head (microcephaly), other birth defects, and delayed development and motor skills.

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Reviewed on 9/7/2018
References
NIH; Genetics Home Reference. Mowat-Wilson syndrome.
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