Sanfilippo Syndrome often goes misdiagnosed for years.  The clues are there, we need your help to find these children.

 

“Levi had frequent ear infections …His head was a little larger than most boys his age, so we had an MRI done. The results came back with no explanations…we noticed a little delay in his speech, but our pediatrician said not to worry, that he would be fine and that we should just give him time… Around age 5, doctors said he had ADHD. We dealt with it…We had him tested for Autism. At that point, we began feeling helpless, knowing our child was regressing in almost every way, but being unable to get answers as to why it was happening or how to help him.” -Christi Omeroid, Levi’s Mother

 

 

The Features of Sanfilippo Syndrome are Clinically Described as Coarse.

  • Broad nose with a flat bridge
  • Thick fleshy skin
  • Frontal lobe bossing-prominent, protruding forehead
  • Macrocephaly-Big head
  • Heavy eyebrows that meet in the middle of the face above the nose.
  • Fleshy Eyelids
  • Full lips
  • Postnatal Macrocephaly-prominent eyes

 

Other Symptoms

  • Hepatomegaly-enlarged liver
  • Sleep difficulties
  • Attention Deficit Hyperactivity Disorder
  • Chronic Diarrhea
  • Umbilical Hernia
  • Cognitive Impairment
  • Perivascular Spaces
  • Recurrent Otitis Media-recurring upper respiratory tract infections

Resources:

http://mpssociety.org/

Sanfilippo Syndrome is one of the 6 forms of Mucopolysaccharidosis, Sanfilippo Syndrome is also known as MPS III with subtypes: MPSIII A,B,C & D. For more information on all forms of MPS please refer to the National MPS Society.

www.connectmps.org

JJB partnered with Ben’s Dream to create the first global Sanfilippo patient registry. The Sanfilippo Patient registry grew fast by partnering with 26 International MPS III associations. In 2016 the  Sanfilippo Patient Registry partnered with the National MPS Society, Canadian Society for MPS & related diseases and ISMRD we re-branded to ConnectMPS.

http://suite.face2gene.com/Cure

Sanfilippo Foundation and JJB partnered with Face2Gene a mobile app for medical professionals that will

  • Detect Phenotypes & Reveal Relevant Facial and Non-facial Features
  • Review Relevant Syndrome Matches
  • Access Best-in-class Resources

https://catalog.coriell.org/1/NIGMS/About/Information-for-Patients

Biobanking: Parents and Physicians, the academic community is in desperate need of tissue samples of our Sanfilippo children. Please consider donating samples. Watch video below.