Symptoms

Hunter syndrome symptoms vary and range from mild to severe. Symptoms aren't present at birth, but often begin around ages 2 to 4 as the harmful molecules build up.

Signs and symptoms may include:

• An enlarged head
• Thickening of the lips
• A broad nose and flared nostrils
• A protruding tongue
• A deep, hoarse voice
• Abnormal bone size or shape and other skeletal irregularities
• A distended abdomen, as a result of enlarged internal organs
• Chronic diarrhea
• White skin growths that resemble pebbles
• Joint stiffness
• Aggressive behavior
• Stunted growth
• Delayed development, such as late walking or talking

When to see a doctor

Hunter syndrome is very uncommon, but if you notice changes in your child's facial appearance, a loss of previously acquired skills, or other signs or symptoms listed above, talk to your child's primary care doctor. He or she can help you decide if you need to see a specialist or seek further testing.