What is Sanfilippo syndrome type A?
Conclusions: Sanfilippo type A is characterized by severe hearing loss and speech delay, followed by a rapid decline in cognitive skills by 3 years of age. Significant somatic disease occurs in more than half of patients.
What is the life expectancy of a child with Sanfilippo syndrome?
Children who have this genetic error of metabolism show no signs at birth. As the disease progresses, they slowly lose the ability to speak, walk, and eat. There’s no cure for Sanfilippo syndrome. The current life expectancy is 10 to 20 years.
What happens when you have Sanfilippo syndrome?
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition.
How rare is Sanfilippo disease?
A family history increases the risk for Sanfilippo syndrome, which affects about 1 in 70,000 births. The condition is also called mucopolysaccharidosis type III (MPS III).
What do kids with Sanfilippo syndrome look like?
Prominent, Thick Eyebrows | The eyebrows are typically larger in size than average and have more abundant hair. As the child ages, the eyebrows thicken further and may converge. Full Lips & Nose | Typically a narrow upper lip and unusually full lower lip.
Is Sanfilippo syndrome a form of autism?
Sanfilippo is the underlying cause for autism in children with this genetic abnormality. A diagnosis of Sanfilippo does not take away the autism diagnosis. If a child is diagnosed with autism, but the underlying cause of Sanfilippo is not recognized, this is considered to be a “incomplete” diagnosis.
Why can’t Sanfilippo be cured?
Because of its neurodegenerative nature and multi-system impact, Sanfilippo Syndrome is often called “childhood Alzheimer’s” or “childhood dementia.” Currently there is no FDA-approved treatment or cure.