The Isabel Jurado Foundation

The Isabel Jurado Foundation

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About Sanfilippo
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Sanfilippo Syndrome takes its name from Dr. Sanfilippo who described the condition in 1963. Sanfilippo Syndrome belongs to a group of diseases called MPS diseases or Mucopolysaccharidoses. Sanfilippo Syndrome is also known as MPSIII. This disease occurs in approximately 1 in every 70,000 births whereas MPS disorders as a whole occur in 1 in every 25,000 births.
Lauren - MPS III
South Carolina

What causes the disease?
Children with Sanfilippo Syndrome are missing an essential enzyme needed to breakdown and dispose of long sugar chains in the body called mucopolysaccharides, also known as GAGs. Because these sugar chains cannot be broken down and disposed of they accumulate in the cells causing progressive damage. Babies and young children with Sanfilippo Syndrome appear normal but symptoms begin to appear with age as more and more GAGs build up in the cells of the body.

How does a child get Sanfilippo Syndrome?
Sanfilippo Syndrome is a recessive autosomal genetic disease.

  • Recessive = both parents must be carriers and there is a 25% of having an affected child with each pregnancy
  • Autosomal = pertaining to a chromosome that is not a sex chromosome. It is not carried on the X or Y chromosome.
  • Genetic = inherited

How do you recognize Sanfilippo Syndrome?
Sanfilippo Syndrome is one of the more difficult MPS diseases to diagnose as physical symptoms are very subtle. Children with the other forms of MPS diseases often present with significant orthopedic abnormalities that result in diagnosis at an earlier age. As with all MPS diseases, physical symptoms become more apparent as the child ages. Here are a few physical commonalities more specific to Sanfilippo Syndrome:

  • Large head circumference
  • Full lips
  • Tongue protrusion
  • Large tonsils and adenoids
  • Thick eyebrows
  • Large ribcage and protruding abdomen
  • Course hair
  • Umbilical hernias
Andrew - MPS IIIB

How does Sanfilippo Syndrome progress?
The rate of progression and onset of symptoms varies from one child to another however all affected children display this general pattern of disease progression:

    The child begins to lag behind his peers in development with speech delay being the first indication of a problem. The child also begins to display difficult behaviors related to a decrease in attention span, development of hyperactivity and a decrease in understanding of language. Hearing changes can also occur in this stage. Common physiological symptoms of this stage include frequent diarrhea, cold and congestion, and ear infections.
    The child begins to display extreme hyperactivity that inhibits normal functioning in all areas of development. They can become very destructive and display aggressive actions due to hyperactivity to the point of agitation. During this stage the child develops an insatiable need to chew on everything and anything. Most children with Sanfilippo Syndrome develop sleep problems during this stage and can even go for days at a time without sleep. Language will be lost which further compounds agitation for the child. Safety is a big concern during this stage as motor functioning generally surpasses cognitive functioning. If the child was ever toilet trained that skill will also be lost during this time.
    The child begins to slow down and issues associated with hyperactivity and destructive behaviors diminish. The child becomes more and more unsteady on their feet and eventually become dependent for all mobility. Deterioration of chewing and swallowing skills can result in the child needing a feeding tube.
Bennett Children - MPS III

What is the life expectancy for Sanfilippo Syndrome?
Life expectancy varies from child to child. Most commonly children do not live past their early teens however there are some reported cases of young adults with Sanfilippo Syndrome. Some children live to be 8 while others live to be 25 or older.

What treatments are available?
There are no cures for any of the MPS disorders however some do have treatments with varying degrees of effectiveness. There is no recognized treatment for Sanfilippo Syndrome. Some children have undergone stem cell transplants in the US with varying results. Go to our Research page to learn about promising areas for effective treatment.