Hunter Syndrome: Symptoms & Signs

Medically Reviewed on 7/24/2020

Hunter syndrome is a genetic metabolic disorder. Hunter syndrome is also known as mucopolysaccharidosis type II (MPS II).

There are two forms of Hunter syndrome: a milder form and a severe form that causes worsening mental and physical disability and death before age 20 in most cases. The typical signs and symptoms of Hunter syndrome include

  • dwarfism,
  • bone deformities,
  • a thickened, coarse face,
  • an enlarged head,
  • thickening of the lips,
  • a broad nose and flared nostrils,
  • a protruding tongue, and
  • a deep, hoarse voice.

Other associated symptoms can include

  • hepatosplenomegaly (enlargement of the liver and spleen) from mucopolysaccharide deposits,
  • cardiovascular disorders from mucopolysaccharide deposits, and
  • deafness.

Cause of Hunter syndrome

A deficiency of the enzyme iduronate sulfatase causes Hunter syndrome, resulting in tissue deposits of molecules called mucopolysaccharides. Hunter syndrome is inherited in an X-linked recessive manner.

Other hunter syndrome symptoms and signs

  • Bone Deformities
  • Broad Nose and Flared Nostrils
  • Cardiovascular Disorders From Mucopolysaccharide Deposits
  • Deafness
  • Deep, Hoarse Voice
  • Dwarfism
  • Enlarged Head
  • Hepatosplenomegaly (Enlargement of the Liver and Spleen) From Mucopolysaccharide Deposits
  • Protruding Tongue
  • Thickened, Coarse Face
  • Thickening of the Lips

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Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.