Foundation contributes to published list of early symptoms of MPS III

June 18, 2020

Valerie Byers, PhD, Board Member, Cure Sanfilippo Foundation

Dr. Cara O’Neill, Chief Science Officer, Cure Sanfilippo Foundation

Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, and Board Member Valerie Byers, PhD, are among the contributors of a newly-published paper that identifies the most-important, early symptoms of Mucopolysaccharidosis III (MPS III) to assist clinicians with early diagnosis.



The paper, “Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III,” was published June 15, 2020, in the Journal of Inborn Errors of Metabolism and Screening.

Early diagnosis of Mucopolysaccharidosis III (MPS III), also known as Sanfilippo Syndrome, “is important to introduce appropriate management measures and to optimize therapeutic outcomes,” stated the paper. “The diagnosis of MPS III is often significantly delayed due to the rarity of the disease, the more attenuated somatic presentation compared to other MPS types, and the symptom overlap with other developmental disorders.”

The paper’s collaborators created a list of eight early signs and symptoms of MPS III to assist in shortening the time to diagnosis.

Before narrowing to a final list of early symptoms of MPS III, the paper explores the following 14 early symptoms, along with supporting medical literature:

  • Hearing loss
  • Craniosynostosis
  • Sleep disturbances
  • ENT problems (early: neonatal breathing difficulty, upper respiratory congestion of nose and/or ears; late: aspiration pneumonia)
  • Gastrointestinal problems
  • Umbilical inguinal hernia
  • Hirsutism (persistent and excessive thick body hair, prominent eyebrows, and synophrys)
  • Facial abnormalities (frontal bossing, coarse facial features, puffiness under eyebrows and eyes, narrow upper lip and thick lower lip)
  • Abnormal growth
  • Speech communication delay* (early subtle speech impairments, trouble with joint attention and engaging with an environment, gradually loss of speech)
  • Behavioral problems* (impulsive and fearless behavior, hypersensitivity and attention problems
  • Hip dysplasia
  • Pain sensation (increased pain tolerance)
  • Mouthing

*The paper specifically addresses how these differ from similar symptoms seen in Autism.

A unique element of this paper is the photograph progressions of children with Sanfilippo Syndrome alongside their unaffected siblings to highlight the early facial coarsening and presence of synophrys. The following is one of the three photo progressions included in the paper. 

Photo Progression of child with Sanfilippo Syndrome and unaffected sibling; Paper "Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III"

Source: Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III, Journal of Inborn Errors of Metabolism and Screening, published June 15, 2020.

The paper’s list is the first step towards the development of a clinical algorithm aiming to identify neonates and infants with MPS III before the onset of neurocognitive damage, ultimately shortening the diagnostic journey of MPS III patients. Currently, it takes an average of two years for a patient to reach a diagnosis of MPS III (Sanfilippo Syndrome).

Click here to read “Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III.”

Related Posts