There are a number of signs and symptoms of Hunter syndrome (MPS II) that occur early in the disease course. The presence of several of the following ‘red flags’ should prompt diagnostic investigation into Hunter syndrome:1

  • Coarse facial features
  • Recurrent respiratory infections
  • Chronic rhinorrhea
  • Upper airway restriction–which may cause noisy breathing or snoring
  • Recurrent otitis media
  • Hearing loss
  • Heart murmur
  • Hepatomegaly
  • Umbilical and inguinal hernia
  • Recurrent watery diarrhea–that is often resistant to medication
  • Joint stiffness and restricted range of motion
  • Developmental and/or speech delay–in severe phenotype only
  • Repeated ENT surgeries, inguinal hernia repairs and carpal tunnel surgeries
Awareness & diagnosis of Hunter syndrome Dr. Barbara Burton

An introduction to the mucopolysaccharidoses and the key symptoms that will aid diagnosis.

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Global Webinar Part One: The key features of Hunter syndrome Dr. David Whiteman

Reviews the clinical features of Hunter syndrome (MPS II) and how it is detected and diagnosed.

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Reference:  1. Burton BK, Giugliani R Eur J Pediatr 2012; 171(4): 631-639.

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