Mucopolysaccharidosis Type II (MPS II) a.k.a. Hunter Syndrome

What is MPS II (Hunter syndrome)?

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a progressively debilitating disorder that affects many areas of the body. It primarily occurs in males (very rarely is a female child affected). Progression varies from patient to patient. Those with a severe form of Hunter syndrome typically decline very quickly, while those with a milder form are living longer thanks to improved treatments for respiratory and cardiac health.

What are the symptoms of MPS II (Hunter syndrome)?

When the child with Hunter syndrome is between two and four years old, physical traits of the disorder begin to manifest. These include full lips, a broad nose, an enlarged tongue, large rounded cheeks, and a broad nose. The vocal cords also enlarge, causing the patient to have a deep hoarse voice. The nasal passages narrow, and because Hunter syndrome is progressive, medical intervention is eventually needed to avoid respiratory distress. Other traits include macrocephaly, hydrocephalus, an enlarged spleen and liver, and inguinal hernia.

What causes MPS II (Hunter syndrome)?

Hunter syndrome occurs when a mutation on the X chromosome is passed on to a male fetus by both parents. This is why it’s so rare for female offspring to have Hunter syndrome.

Where can I find more information on MPS II (Hunter syndrome)?

• Hunter Syndrome Foundation
• NIH
• HunterPatients
• MPS Society