Misdiagnosis of Mucopolysaccharidosis (MPS) results in late diagnosis and the late start of treatment, which has significant consequences on long-term outcomes. This gap usually results in confusing symptoms with other conditions, most notably trying to address symptoms directly and delaying actual diagnosis and treatment or referring the patient to the wrong pediatric specialties, causing further delays in the condition’s management chain.

Language: English 

Duration: 30 minutes, followed by questions from the audience

Presenter: Prof. Paul Harmatz, Professor in Residence at the University of California, San Francisco


This educational activity is designed for an international audience of General Pediatricians, General Practitioners, Pediatric Endocrinologists, Pediatric Rheumatologists, and other physicians and healthcare professionals interested in Metabolic Diseases.



  • An overview of typical features of different forms of mucopolysaccharidoses.

  • Taking a clue-by-clue approach, deconstructing the identification and referral process in detail.

  • What all frontline paediatricians need to look for to spot the very early signs of MPS.

  • Examining the importance of early detection where successful treatment is likely and available.

  • MPS diagnosis case study - skeletal presenting symptoms - diagnosis in action.

Watch the video. It's free.

The Spot the Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.