Hunter syndrome is a rare genetic disorder that occurs when an enzyme your body needs is either missing or malfunctioning.

Hunter syndrome appears in children as young as age 2. It nearly always occurs in males, although it may also occur in females. Hunter Syndrome can be diagnosed by a child's appearance along with an enlarged spleen and liver. You might also have ivory colored skin lesions. Hunters Syndrome can also be diagnosed by a blood test to see if there is a deficiency in I2S. X-rays for bone changes and urine tests can also determine if you have Hunters Syndrome.

In Hunter syndrome, GAG build up in cells throughout the body due to a deficiency or absence of the enzyme I2S.This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious problems.

Here are the most common symptoms of Hunters Syndrome:

coarse facial features and short stature

enlarge liver and spleen

progressive and profound mental retardation

ivory-colored skin lesions on the upper back and sides of the upper arms and thighs

skeletal changes, joint stiffness, short neck, broad chest, and too-large head

progressive deafness - View comments...

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