What are the signs and symptoms of MPS I?

MPS I has a wide range of symptoms, and people may experience different degrees of disease progression. Because the signs and symptoms are variable, it affects each individual differently. The list below provides an overview of the signs and symptoms that may occur in individuals with various severities of MPS I.

Click on each symptom for more information, including how it is managed.

Stiffened joints
Skeletal (bone)
Carpal tunnel syndrome 
Heart (valve) disease 
Recurrent upper airway infections 
Lung disease/sleep apnea 
Corneal clouding 
Spinal cord compression 
Enlarged liver and spleen 
Hernia (inguinal or umbilical) 
Hearing loss 
Delayed mental development 
Coarse facial features 
Communicating hydrocephalus (fluid on the brain) 
Abnormally shaped teeth

Life expectancy

Life expectancy varies significantly for people with MPS I. This depends on many factors, such as where they are on the spectrum of disease severity, and management of its signs and symptoms. The affected individuals on the Scheie side of the spectrum can have a reasonably normal lifespan. Some individuals who are more severely affected (those with what was historically called Hurler-Scheie disease) may die before becoming teenagers, while others may live to be adults.

Sadly, the most severely affected children (those with what was historically known as Hurler) rarely live more than 10 years. Hopefully, with new medical technology, people affected with Hurler disease can hope to enjoy a longer lifespan.