Signs & Symptoms of Hunter Syndrome

The symptoms of Hunter syndrome (MPS II) are generally not apparent at birth, but usually start to become noticeable after the first year of life.

Common early symptoms of Hunter syndrome may include:

• inguinal hernia
• ear infections
• runny nose
• colds

Since these 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 GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible.

Some possible later signs & 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
• carpel 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.