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: Maurizio Scarpa, Regional Coordinating Center for Rare Diseases Udine University Hospital, Udine, Italy


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.



  • Preparing you to ’think rare’ and think of MPS as a possible diagnosis by deconstructing the early signs and symptoms.

  • To avoid referrals to the wrong specialists, what diagnostic steps should you take to refer a patient?

  • Reviewing the main musculoskeletal manifestations of mucopolysaccharidoses.

  • Examining how to recognise signs of metabolic disease and what these look like in practice.

  • MPS diagnosis musculoskeletal case study - 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.