Otolaryngologists

Be the first to suspect Hunter syndrome (MPS II).

Symptoms of Hunter syndrome generally appear between the ages of 2 and 4 years, and can vary widely among patients1. When you see recurrent head and neck conditions, look for a larger cluster of signs and symptoms.

Symptoms of hunter syndrome, mucopolysaccharidosis type II
Early diagnosis is key
  • Hunter syndrome (MPS II) is a progressive and severe X-linked genetic disorder1
  • Over time, children may experience irreparable damage to many organs and systems3
  • In severe cases, death can occur by the teens; in milder cases, patients can live into their 50s or 60s1
Screening and diagnosis
  • Screening methods include measuring urinary glycosaminoglycans (GAG)1
  • A geneticist will make a definitive diagnosis by measuring iduronate-2-sulfatase (I2S) activity in serum, white blood cells, or fibroblasts from skin biopsy1

Refer appropriate children to a medical geneticist immediately for a definitive diagnosis.

To find a geneticist in your area:

American College of Medical Genetics Find a geneticist in your area with a searchable member database.

To find a genetic counselor in your area:

The National Society of Genetic Counselors Information and resources for genetic counselors

References:
  1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AI, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3421-3452.
  2. Finlayson LA. Hunter syndrome (mucopolysaccharidosis II). Pediatr Dermatol. 1990;7:150-152.
  3. National Institute of Neurological Disorders and Stroke. National Institutes of Health. Mucopolysaccharidoses fact sheet. www.ninds.nih.gov Accessed June 19, 2007.
  4. Wraith JE. Idursulfase for enzyme-replacement therapy in mucopolysaccharidosis II. Therapy. 2007;4:231-240.