Hunter Syndrome

Lysosomal Storage Disease

In The US: About 14,350 births annually.

Also Called:
Mucopolysaccharidosis II, MPS II

Mayo Clinic

U.S. National Library of Medicine




Hunter syndrome, is a serious genetic disorder that primarily affects males. It is a rare genetic disorder that slowly destroys the body’s cells. This rare condition affects 1 in 150,000 males.

There is currently no cure, and the disease is progressive and life-limiting. It interferes with the body’s ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAG. Hunter syndrome is one of 50 different lysosomal storage diseases. 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. Often, the first symptoms of Hunter syndrome may include abdominal hernias, ear infections, runny noses, and 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 glycosaminoglycans (GAG) continues throughout the cells of the body, signs of Hunter syndrome become more visible. Physical appearances of many children with Hunter syndrome include a distinctive coarseness in their facial features, including a prominent forehead, a nose with a flattened bridge, and an enlarged tongue. For this reason, unrelated children with Hunter syndrome often look alike. They may also have a large head as well as an enlarged abdomen. Many continue to have frequent infections of the ears and respiratory tract.

Hunter Syndrome In The News

UNC-CH Treats Patient With Novel Genome-Editing Therapy

Read More    published: 03/26/2018

Parents Look for Support for Their Five-Year-Old Suffering With Rare Hunter’s Syndrome

Read More    published: 12/16/2016

Karen Johnson Wins Special Recognition Pride of Britain Award

Read More    published: 10/26/2016

First-In-Man Clinical Trial for Hunter Syndrome Underway

Read More    published: 06/03/2015

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