Short Stature And Other Endocrine Presenting Symptoms Of Mucopolysaccharidoses (MPS)

30 minutes
English
Rare Diseases
Mucopolysaccharidosis
MPS

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.

Learning Objectives

Gain a better understanding of the main endocrine presenting signs of Mucopolysaccharidoses.Recognize how to avoid the misdiagnosis of short stature when it is a symptom of MPS instead.An overview of the other endocrine presenting symptoms of MPS I and treatment/referral options.