Sanfilippo Syndrome

Disease database

Sanfilippo Syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disorder that affects the body’s ability to break down certain sugars. This leads to the accumulation of harmful substances in the body, causing a range of symptoms and complications. While there is currently no cure for Sanfilippo Syndrome, early diagnosis and management can help improve the quality of life for affected individuals.

Developmental Delay

One of the earliest signs of Sanfilippo Syndrome is developmental delay. Children with this condition may take longer to reach milestones such as sitting, crawling, and walking. They may also have difficulty with fine motor skills, such as grasping objects or using utensils. It is important for parents and caregivers to monitor a child’s development and seek medical advice if there are concerns.

Speech Impairment

Speech impairment is a common feature of Sanfilippo Syndrome. Children may have difficulty with articulation, making it hard for others to understand them. They may also have a limited vocabulary and struggle with expressive language. Speech therapy can be beneficial in improving communication skills and helping individuals with Sanfilippo Syndrome express themselves effectively.

Hyperactivity and Behavioral Problems

Hyperactivity and behavioral problems are often observed in individuals with Sanfilippo Syndrome. They may have difficulty sitting still, be easily distracted, and exhibit impulsive behavior. These challenges can impact daily functioning and may require behavioral interventions and support from healthcare professionals.


Seizures can occur in individuals with Sanfilippo Syndrome. These episodes of abnormal electrical activity in the brain can manifest as convulsions, loss of consciousness, or unusual movements. Seizures should be promptly evaluated and managed by a healthcare provider to ensure the safety and well-being of the affected individual.

Hearing Loss

Hearing loss is a common complication of Sanfilippo Syndrome. It can range from mild to severe and may require the use of hearing aids or other assistive devices. Regular hearing evaluations are important to monitor any changes in hearing and provide appropriate interventions.

Vision Problems

Sanfilippo Syndrome can also affect vision. Individuals may experience progressive vision loss, including difficulty seeing in low light or at night. Regular eye examinations are essential to detect and manage any visual impairments.

Sleep Disturbances

Sleep disturbances are common in individuals with Sanfilippo Syndrome. They may have difficulty falling asleep, staying asleep, or experience frequent awakenings during the night. Establishing a consistent bedtime routine and creating a sleep-friendly environment can help improve sleep quality for affected individuals.

Skeletal Abnormalities

Skeletal abnormalities, such as joint stiffness and limited range of motion, are often seen in individuals with Sanfilippo Syndrome. Physical therapy and regular exercise can help maintain flexibility and mobility, improving overall quality of life.


Hepatosplenomegaly, enlargement of the liver and spleen, is a characteristic feature of Sanfilippo Syndrome. Regular monitoring of liver and spleen size through medical imaging is important to assess the progression of the disease and guide management strategies.

Recurrent Infections

Individuals with Sanfilippo Syndrome may be more susceptible to recurrent infections, such as respiratory or urinary tract infections. It is crucial to maintain good hygiene practices, ensure appropriate vaccinations, and promptly treat any infections to prevent complications.

Treatment and Management

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

  • Supportive care: Providing assistance with daily activities, such as feeding, bathing, and dressing, can help individuals with Sanfilippo Syndrome maintain their independence and overall well-being.
  • Medications: Certain medications may be prescribed to manage specific symptoms, such as seizures or behavioral problems. It is important to work closely with healthcare professionals to determine the most appropriate treatment options.
  • Therapies: Speech therapy, occupational therapy, and physical therapy can play a crucial role in addressing the developmental, communication, and physical challenges associated with Sanfilippo Syndrome.
  • Genetic counseling: Genetic counseling can provide valuable information and support to families affected by Sanfilippo Syndrome. It can help individuals understand the inheritance pattern of the condition and make informed decisions regarding family planning.
  • Research and clinical trials: Ongoing research and clinical trials are exploring potential treatments for Sanfilippo Syndrome. Participating in these studies can contribute to the advancement of knowledge and potentially offer new therapeutic options.

It is important for individuals with Sanfilippo Syndrome to receive comprehensive and multidisciplinary care from a team of healthcare professionals, including pediatricians, geneticists, neurologists, and therapists. Regular monitoring and early intervention can help manage symptoms and optimize the overall well-being of affected individuals.

In conclusion, Sanfilippo Syndrome is a rare genetic disorder that presents with a range of symptoms and complications. While there is currently no cure, early diagnosis and management can significantly improve the quality of life for affected individuals. By understanding the various aspects of this condition and implementing appropriate treatment and support strategies, individuals with Sanfilippo Syndrome can lead fulfilling lives to the best of their abilities.

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