It is possibly the most common of the mucopolysaccharide storage diseases. Sanfilippo syndrome has a relatively late onset rather than during the first year of life. It shares, in common with most of the mucopolysaccharide storage diseases, coarse facial features, decreased mental development that progresses to severe mental retardation , stiff joints, gait disturbances, speech disturbances , and behavioral problems. Unlike Hurler syndrome the cornea is clear, the condition is not as unrelenting, and survival times are longer, often into the twenties or later. Genetic counseling is recommended for prospective parents with a family history of Sanfilippo syndrome.
Severe retardation is the most important of the clinical problems.
IQs may be below 50. Sanfilippo is compatible with a normal lifespan. The affected person may develop retinal degeneration leading to blindness , or may have seizures . Call your health care provider if your child does not seem to be growing or developing normally. Call for an appointment with your health care provider if you plan to have children and you have a family history of Sanfilippo syndrome.