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Sanfilippo Syndrome: What It Is, Symptoms Treatment - Cleveland Clinic Sanfilippo syndrome is a group of rare genetic conditions that affect several body systems but mainly your child’s nervous system It happens when their body can’t break down a certain substance, which builds up in cells and damages them
Sanfilippo syndrome - Wikipedia Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides)
The Early and Later Symptoms of Sanfilippo Syndrome What to do if you suspect Sanfilippo If your child has any of these symptoms or you are concerned they might have Sanfilippo, the next step is to contact your child’s primary care provider and request testing for Sanfilippo Use the information below to aid your discussion with them
What is Sanfilippo Syndrome? Sanfilippo syndrome was first described in 1963 by Dr Sylvester Sanfilippo and is considered rare, with an occurrence of 1 in every 70,000 births It is an autosomal recessive hereditary disorder, which means, both parents must be carriers in order for the child to be affected
MPS III - National MPS Society Learn more about MPS III, also known as Sanfilippo syndrome, and get connected with resources to treat and manage this rare disease
Sanfilippo Children’s Foundation Sanfilippo is a rare genetic condition that causes fatal brain damage It is a type of childhood dementia and most patients never reach adulthood But there is hope Researchers around the world are working hard to find effective treatments Sanfilippo is considered a rare disease: 1 in 70,000 children are born with the inherited condition
What is Sanfilippo Syndrome - Cure Sanfilippo Foundation Sanfilippo Syndrome — also known as Mucopolysaccharidosis type III or MPS III — is a terminal, neurodegenerative rare disease It causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, and then die, often before the second decade of life