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.
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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.
SIGNS AND SYMPTOMS
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
SIGNS AND SYMPTOMS
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