Sanfilippo syndrome

Unlike Sanfilippo syndrome, the mental development is often normal.

Learn about Sanfilippo syndrome causes, symptoms, treatment and prevention.

The incidence of Sanfilippo syndrome (for all four types combined) is about one in 70,000 births.

Like Sanfilippo syndrome, onset of symptoms is delayed until after the first year, and life expectancy may exceed 20 years.

The Australian study estimated the following incidences for each subtype of Sanfilippo syndrome:

A couple of US-based groups have recently been organized to speed the development of new treatments for Sanfilippo syndrome.

This enzyme is deficient in Sanfilippo Syndrome type IIId.

Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.

MPS III, Sanfilippo syndrome, is marked by severe neurological symptoms.

There are four distinct types of Sanfilippo syndrome, each caused by alteration of a different enzyme needed to completely break down the heparan sulfate sugar chain.

MPS III (Sanfilippo syndrome)

Sanfilippo Syndrome Sanfilippo syndrome causes large amounts of heparin sulfate to be excreted in urine.

MPS-III (Sanfilippo Syndrome) is one of seven MPS Disorders.

Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease.

The group of Grzegorz Węgrzyn, from the Department of Molecular Biology of University of Gdansk, Poland, found that genistein decreases pathological cumulation of glycosaminoglycans in Sanfilippo syndrome.

Little clinical difference exists between these four types but symptoms appear most severe and seem to progress more quickly in children with type A. The average duration of Sanfilippo syndrome is 8 to 10 years following onset of symptoms.

Mutations on the alpha-N-acetylglucosaminidase (NAGLU) gene can lead to Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo syndrome type B) characterised by neurological dysfunction but relatively mild somatic manifestations.

Teeth - widely spaced Normal growth (temporary widening) Tooth shifting due to missing teeth Acromegaly Morquio syndrome Sanfilippo syndrome Ellis-van Creveld syndrome Possible presence of periodontal disease or trauma If the appearance is bothersome, ask your dentist about the possibility of orthodontic work (braces).