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Learn more about Hunter syndrome

Hunter syndrome (also known as mucopolysaccharidosis type II, MPS II) is a rare genetic disease that almost exclusively affects boys. The condition presents at around 2–4 years of age with a combination of symptoms, many of which overlap with common childhood complains, making it hard to diagnose.

The articles found on this page take a detailed look at some of the different Hunter syndrome symptoms, along with:

  • The basics of Hunter syndrome including genetics and the metabolic effects of the disease
  • The key signs and symptoms that may indicate the condition

Articles available now focus on the presence of sleep apnoea, hernias and recurrent ear and respiratory infections in children, and how they may be a sign of Hunter syndrome.

If you think that your child may be showing two or more of the symptoms of Hunter syndrome, speak to your doctor.

Delayed diagnosis - a mother's journey
This article highlights the diagnosis of rare diseases, with examples from Hunter syndrome parents of their own diagnosis journeys
The broken metabolism in Hunter syndrome
This article highlights the metabolic nature of Hunter syndrome
The Hunter syndrome gene
This article highlights the genetics and DNA changes present in a child with Hunter syndrome
Recurrent ear and respiratory infections in children
This article highlights how recurrent ear and respiratory infections, along with other signs and symptoms, could be an indication of Hunter syndrome
Umbilical and inguinal hernias in children
This article highlights how hernias, along with other signs and symptoms, could be an indication of Hunter syndrome
Sleep apnoea in children
This article highlights how sleep apnoea, along with other signs and symptoms, could be an indication of Hunter syndrome
Explore the rest of the Huntersyndrome.info website to learn more
Follow Rare2Aware on Facebook, Instagram and Twitter to read stories of living with Hunter syndrome and other rare diseases
Visit the Hunter syndrome YouTube channel for interviews with families and animations that help explain Hunter syndrome