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What Are The Presenting Features Of Hunter Syndrome?

What is Hunter Syndrome?

Hunter Syndrome is an extremely rare inherited medical condition characterized by a dysfunctional enzyme called iduronate 2-sulfatase.(1) This enzyme functions by breaking down certain extremely complex molecular structures in the body and aids in smooth functioning of the organs of the body. A depletion of complete absence of this enzyme causes buildup of these molecular structures which is extremely harmful for the body.(1)

Gradual buildup of these molecular structures results in permanent damage to various parts of the body, which affect the overall mental development of the patient.(1) Hunter Syndrome also results in dysfunction of various organ systems. The physical structure of the patient also gets affected as a result of Hunter Syndrome. Hunter Syndrome is more often seen in boys than girls.

Hunter Syndrome belongs to mucopolysaccharidosis, which is a group of inherited metabolic conditions.(2) Hunter Syndrome does not have a cure and treatment is aimed at controlling symptoms and preventing any complications arising out of this condition.(3, 4) Hunter Syndrome is an X-linked recessive disorder in which the defective gene is inherited from one parent.(5)

Hunter Syndrome is a progressive condition and the overall medical condition of the affected individual gradually worsens with time. This article details some of the presenting features of Hunter Syndrome.

What are the Presenting Features of Hunter Syndrome?

The presenting symptoms of Hunter Syndrome are significantly variable depending on the extent of the disease and ranges from mild to severe. The presenting features of Hunter Syndrome may not be evident immediately after the birth of a child, but generally develop by the time the child is around three to four years of age.(6) This is when there is build-up of the molecular structure due to the dysfunctional enzyme affecting functioning of various vital organs of the body.

A child with Hunter Syndrome will have an enlarged head.(8) The lips of the patient suffering from Hunter Syndrome will also be abnormally thick.(8) The nose of the patient having Hunter Syndrome will also be broad with a protruding tongue.(7, 8) The voice will also be hoarse along with other musculoskeletal abnormalities with abnormally shaped bones in Hunter Syndrome.(8) The internal organs of patients with Hunter Syndrome also get enlarged as a result of which the abdomen becomes distended.

There are also certain dermatological abnormalities seen in people with Hunter Syndrome with white colored blister like skin growths.(8) Behavior wise, people with Hunter Syndrome have abnormally aggressive behavior.

There are also developmental delays in patients suffering from Hunter Syndrome. The development; however, remains normal for the first two years of life of the patient and when the symptoms first begin to appear, then the growth retardation begins. Joint stiffness and frequent episodes of diarrhea is also quite common in people with Hunter Syndrome.

Hunter Syndrome is extremely rare; however, if a child shows significant change in facial appearance, growth retardation, and musculoskeletal abnormalities among other symptoms seen with this condition, then it is best to consult with a physician to rule in or out Hunter Syndrome.


In conclusion, Hunter Syndrome is a rare inherited condition in which the enzyme that breaks down complex molecular structures for smooth functioning of the body. Due to malfunction of this enzyme there is accumulation of these molecular structures, which gradually starts affecting the functioning of vital organs of the body. There is no cure for Hunter Syndrome.

The presenting features of Hunter Syndrome are not visible till the child is about two years of age. This is when parents start noticing significant physical and behavioral changes in the child. Musculoskeletal abnormalities, such as abnormal shape and size of the bones are also quite common in Hunter Syndrome.

Thus, if a child is observed to have any of the symptoms mentioned above then it is recommended to consult with a physician for an accurate diagnosis so that a treatment plan is devised to best suit the patient and prevent complications from Hunter Syndrome.


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Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:August 31, 2019

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