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Created with Fabric.js 1.4.5 Sanflilippo Syndrome Causes: -Sanfilippo syndrome occurs when the enzymes needed to break down the heparan sulfate sugar chain are missing or don't work effectively.- Disease is autosomal recessive by which means that both parents must have the disease gene in order for their child to have a 25% chance of having the disease tap and hold to change this header text! Who? -Sanflilippo Syndrome affects 1 out of 70,000 children which is about 100,000 of the children in the world affected. -Sanflilippo Syndrome does not occur in a specific gender or ethnicity, but just in children. Symptoms: Diarrhea Full lips Walking Problems Zzz... Sleep Difficulties CoarseFacial Features BehaviorProblems Exams and Screenings: -Physical Exam; may show signs of liver and spleen swelling-Eye Exam; show clear corneas, unlike cloudy corneas seen in people with hurler syndrome-Neurological Exams; may reveal signs of seizures and intellectual disabilities -Urine Exam; may show large amounts of heparan sulfate in the urine.-Blood Culture -Echocardiogram -Slit lamp eye exam -skin fibroblasts culture-X-Rays of the bones Long-Term Affects: -Blindness-inability to self care for-intellectual disability -seizures -nerve damage that could eventually get worse and require wheelchair use(Unfortunately, there are no found cure or treatments for Sanflilippo Syndrome) Other Facts on Sanflilippo Syndrome: -There are 4 different types of Sanflilippo Syndrome, Type A, B, C, and Type D. -Type A is most severe of all.-Sanflilippo Syndrome belongs to a group of disease called MPS- The average IQ of Sanflilippo Syndrome children is a 50- Most die in teenage years- Some with type A Sanflilippo Syndrome die earlier than teenage years-A child might have normal growth during first few years it final height is below average
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