Hurler Syndrome

Disease database

Hurler Syndrome, also known as MPS I-H, is a rare genetic disorder that affects the body’s ability to break down certain substances. It is a type of mucopolysaccharidosis (MPS), a group of disorders characterized by the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. This article aims to provide a comprehensive understanding of Hurler Syndrome, its symptoms, causes, and potential treatment options.

Coarse Facial Features: A Distinctive Appearance

One of the prominent signs of Hurler Syndrome is the presence of coarse facial features. Children with this condition often have a broad nose, thick lips, and a large tongue. Their facial structure may appear different from typical individuals, making it easier to identify the syndrome.

Enlarged Liver and Spleen: An Internal Manifestation

Hurler Syndrome can also lead to the enlargement of the liver and spleen. These organs play vital roles in the body’s metabolism and immune system. When affected by the syndrome, they may become larger than normal, causing discomfort and potential complications.

Skeletal Abnormalities: Impact on Mobility

Individuals with Hurler Syndrome often experience skeletal abnormalities, which can affect their mobility and overall physical development. These abnormalities may include short stature, abnormal curvature of the spine (scoliosis), and joint stiffness. These skeletal issues can make it challenging for affected individuals to perform daily activities.

Developmental Delay: Challenges in Learning and Growth

Developmental delay is a common feature of Hurler Syndrome. Children with this condition may experience delays in reaching developmental milestones such as sitting, crawling, and walking. They may also have difficulties with speech and language acquisition. Early intervention and specialized therapies can help mitigate these delays and support optimal growth and development.

Hearing Loss: Impairment in Auditory Function

Hurler Syndrome can lead to hearing loss, which can vary in severity. The accumulation of GAGs in the ear can affect the structures responsible for transmitting sound waves to the brain. Regular hearing evaluations and appropriate interventions, such as hearing aids or cochlear implants, can help individuals with Hurler Syndrome overcome these challenges.

Heart Valve Problems: Affecting Cardiovascular Health

Heart valve problems are another potential complication of Hurler Syndrome. The accumulation of GAGs can affect the structure and function of heart valves, leading to abnormalities in blood flow. Regular cardiac evaluations and, in some cases, surgical interventions may be necessary to manage these cardiac issues.

Treatment Options and Management Strategies

While there is currently no cure for Hurler Syndrome, various treatment options and management strategies can help improve the quality of life for affected individuals. These may include:

  • Enzyme Replacement Therapy (ERT): ERT involves regular infusions of the missing enzyme, which can help reduce the accumulation of GAGs in the body. This treatment can help alleviate some symptoms and slow down disease progression.
  • Stem Cell Transplantation: Stem cell transplantation, also known as a bone marrow transplant, can replace the faulty cells responsible for the enzyme deficiency. This procedure can potentially halt the progression of the disease and improve overall outcomes.
  • Supportive Care: Managing the symptoms and complications associated with Hurler Syndrome is crucial. This may involve physical therapy, occupational therapy, speech therapy, and regular monitoring of organ function.

It is important for individuals with Hurler Syndrome to receive comprehensive and multidisciplinary care from a team of healthcare professionals, including geneticists, pediatricians, and specialists in various fields.


Hurler Syndrome is a complex genetic disorder that affects multiple systems in the body. The distinctive facial features, enlarged liver and spleen, skeletal abnormalities, developmental delay, hearing loss, and heart valve problems are all characteristic manifestations of this syndrome. While there is no cure, early diagnosis and appropriate interventions can significantly improve the quality of life for individuals with Hurler Syndrome. Ongoing research and advancements in treatment options offer hope for better outcomes in the future.

Haroon Rashid, MD
Rate author
Urgent Care Center of Arlington, VA
Add a comment