Recognizing Hunter syndrome

Signs and Symptoms

Learn about how Hunter syndrome presents itself and the signs and symptoms that are commonly seen through those effected by the condition. 

young boy playing with toys

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Though the disease is present at birth, symptoms become more apparent as the accumulation of GAGs builds within the body, triggering a diagnosis usually between 2 to 4 years old. Most boys with Hunter syndrome continue to develop physically and cognitively until between the ages 2 and 5 and then begin regressing. These boys gradually lose the ability to talk, walk and eat. Most do not live to see their teen years. Approximately 20% of those affected by Hunter syndrome do not suffer cognitive impairments or regression and may have normal intelligence but a continuum of physical symptoms.


A Quick Look

Hunter syndrome is a rare genetic disease that is progressively debilitating, life-limiting and without a cure. It occurs almost exclusively in males and currently affects approximately 500 boys in the U.S. and less than 2,000 worldwide.

Icon for: 2-4 Years of Age Typical Age of Diagnosis
Years of Age
Typical Age of Diagnosis
Icon for: 20% Of Boys Affected Don't Suffer Cognitive Impairments of Regression
Of Boys Affected
Don't Suffer Cognitive Impairments of Regression


Recognizing Hunter syndrome

These symptoms may not be present at birth and generally become noticeable within 2 to 4 years of age: 

  • Runny Nose 
  • Colds 
  • Recurrent Ear Infections 
  • Joint Stiffness 
  • Numbness or Weakness in Hands 
  • Breathing Problems such as Sleep Apnea 
father holding smiling young boy


The Physical Attributes

Typically, boys affected by Hunter syndrome present distinct physical features.

  • Large, Round Cheeks
  • Coarse Facial Features or Tough Skin
  • Enlarged Abdomen, Tongue and Tonsils
  • Bushy Eyebrows
  • Broad Nose
  • Large Head
  • Slowed Growth

October 26, 2024

WonderFall Family Festival

Project Alive and The Hunter Syndrome Foundation are teaming up to host the WonderFall Family Festival on October 26, 2024 at the Rough Rider's Stadium in Frisco, TX! This fall festival will be an inclusive, family friendly event to raise awareness about Hunter syndrome and support the work being done in research, advocacy, and community support by Project Alive.