Sanfilippo syndrome

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There is no specific treatment available for Sanfilippo syndrome. Experiments in animal models suggest that enzyme replacement may be used for treatment in the future.

Additional information and resources are available from the National MPS Society.

Severe retardation is the most important of the clinical problems. IQs may be below 50. Severe cases lead to death before 20 years of age.

In a minority of cases, Sanfilippo is compatible with a normal lifespan. The affected person may develop retinal degeneration leading to blindness, or may have seizures.

• Blindness
• Seizures
• Mental retardation
• Progressive neurologic disease leading to becoming wheelchair bound
• Inability to care for self

Call your health care provider if your child does not seem to be growing or developing normally.

Call for an appointment with your health care provider if you plan to have children and you have a family history of Sanfilippo syndrome.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.