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
- 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
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
- Deep, Hoarse Voice
- Enlarged Head
- Hepatosplenomegaly (Enlargement of the Liver and Spleen) From Mucopolysaccharide Deposits
- Protruding Tongue
- Thickened, Coarse Face
- Thickening of the Lips
Main Article on Hunter Syndrome Symptoms and Signs
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