The online session is part of the Spot the Early Signs program aiming 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.


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: Christina Lampe, Director of the Centre for Rare Diseases of the Department of Child Neurology, Epileptology and Social Medicine, Center for Paediatric and Adolescent Medicine, University Hospital of Gießen, Germany


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.



  • Reviewing the main red flags, signs and symptoms, the basis of diagnostics and when to refer if you suspect MPS.

  • Better understand how the suspect and confirm MPS patients in your everyday practice.

  • Increase your awareness about the main presenting signs of mucopolysaccharidoses.

  • Exploring the clues on when to suspect MPS based on the symptoms and family history.

  • Reviewing how to best follow up with patients - what are the immediate next steps?

Watch the video. It's free.