Sanfilippo Syndrome

Below you will find more information about Sanfilippo Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Sanfilippo Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Sanfilippo Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Sanfilippo Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Sanfilippo syndrome pertains to a hereditary metabolism disorder characterized by the body's inability to properly break down complex sugar molecules called glycosaminoglycans. Sanfilippo syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS), and is sometimes called MPS II.


A physical exam may be done to screen for signs of spleen and liver swelling. An eye exam can also be done to determine clear corneas (as opposed to the cloudy corneas of Hurler syndrome patients). Urine tests are typically required to screen for elevated mucopolysaccharides in the urine. In addition, neurological tests can be done to identify signs of seizures and mental retardation. Other tests that can lead to a diagnosis of Sanfilippo syndrome include: echocardiogram, slit lamp eye exam, blood culture, bone x-rays, and skin fibroblast culture.


Currently, there is no available treatment for Sanfilippo syndrome. Treatment of affected children remains largely supportive.

Symptoms and Signs

Symptoms of Sanfilippo syndrome typically appear after the first year of life. At ages 2 and 6, affected children usually begin to show a decline in learning ability. While growth will appear normal in the first few years of life, affected children will always have a lower-than-average height. Growth and development problems are followed by mental deterioration. In addition, affected children generally have coarse facial features, distinctly full lips, heavy eyebrows that meet in the middle of the face above the nose, as well as stiff joints that don't fully extend. Other symptoms include walking difficulties and diarrhea.


Sanfilippo syndrome is caused by the absence of enzymes that are necessary to break down the heparan sulfate sugar chain. The disease has 4 major forms, each of which affects a different enzyme. In its most severe form (Sanfilippo type A), patients have an altered form or are missing an enzyme called heparan N-sulfatase. The absence or alteration of alpha-N-acetylglucosaminidase is known as Sanfilippo type B. The lack of CoAlpha-glucosaminide acetyltransferase and N-acetylglucosamine 6-sulfatase are known as Sanfilippo C and Sanfilippo D, respectively. Sanfilippo syndrome is hereditary with an autosomal recessive pattern.

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