Signs & Symptoms of Hunter Syndrome

The symptoms of Hunter syndrome (MPS II) are generally not apparent at birth, but usually start to become noticeable between 2 and 4 years of life.

Common early symptoms of Hunter syndrome may include:

• inguinal hernia
• recurrent ear infections
• runny nose
• colds
• coarse facial features
• hearing loss
• recurrent watery diarrhea
• joint stiffness
• enlarged abdomen
• enlarged tongue and tonsils

Since these signs and symptoms are quite common among all infants, they are not likely to lead a doctor to make a diagnosis of Hunter syndrome right away. As the buildup of GAGs continues throughout the cells of the body, signs of Hunter syndrome become more visible.

Some possible later signs and symptoms are:

• a distinctive coarseness in facial features including a prominent forehead, a nose with a flattened bridge, and an enlarged tongue*
• a large head
• an enlarged abdomen
• frequent ear infections*
• respiratory infections
• cardiac/valvular heart disease
• breathing problems while sleeping
• limited lung capacity
• joint stiffness and limited range of motion*
• carpal tunnel syndrome
• short stature
• pebbly, ivory-colored skin lesions on upper arms, legs, and upper back
• developmental delays
• It is important to note that the rate and degree of progression may be different for each person with Hunter syndrome and there is a broad range in the type and severity of the symptoms.

* These signs and symptoms may also appear earlier in Hunter patients with the severe phenotype.