Sanfilippo Legacy Project

Sanfilippo Research Opportunity for Families – The Legacy Project

Name of Study:  Facial features in children with Sanfilippo Syndrome

Syndromes being studied: MPS III, Mucopolysaccharidosis III, Sanfilippo Syndrome 

Genders being studied: males and females

Age Range: any

Other eligibility requirements: confirmed diagnosis of Sanfilippo with frontal facial images at different ages

Travel required: no

Principal Investigator(s): Cara O’Neill, MD

Description:  One way to determine if different genetic syndromes have distinctly recognizable facial features is by using sophisticated facial recognition software. This distinction could, in time, lead to an earlier diagnosis by medical professionals.

Parents would be asked to submit facial photos of their children (affected children at different ages) and share their genomic findings or diagnosed syndrome, chronologic age of patient at the time the photo was taken, but no other protected health information.  Please be sure to enter available photos at the earliest ages you have, so that the system might learn the early features of Sanfilippo, and hopefully improve earlier diagnosis.  We would try to define the facial features for MPS III and study the facial features over different ages, genders and ethnicities through a private online portal that will be made available to the support group. This online portal includes an informed consent section and directions for patients or their family member to submit photographs. All submitted photos will be then transferred to the Face2Gene account of the Dr. Cara O’Neill, the principal investigator for this study. All information submitted in the Face2Gene software is secured in a HIPPA compliant manor.

Once sufficient numbers of photos have been submitted, FDNA will run an analysis on the different groups of photos to determine whether there are distinct gestalts and how these gestalts change over time. Cure Sanfilippo Foundation and Jonah’s Just Begun-Foundation will collaborate to share the portal’s online address and access code with members, through the website, newsletter, social media, etc. The portal’s address is:

Access code: orange

***One important thing to note, is that due to the way the system is set up, it is best to enter all of your photos and information in one setting. There is not a save and re-login feature at this time.***

To be able to upload photos, families need to “sign” that they have read and understood the content of this page. If families do not wish to state their real names or email, they are also free to do so.

Primary funding source(s): None

Primary Contact: Dr. Cara O’Neill

Date Posted:  May 2017

Questions?  Contact Dr. O’Neill at