ACHONDROPLASIA

Course overview

ACHONDROPLASIA IS THE MOST COMMON SKELETAL DYSPLASIA FOUND IN HUMANS, ACCOUNTING FOR 90% OF CASES OF DISPROPORTIONATE SHORT STATURE. IT IS CAUSED BY A MUTATION OF THE FIBROBLAST GROWTH FACTOR RECEPTOR 3 (FGFR3) AND HAS AN AUTOSOMAL DOMINANT INHERITANCE. THE CHARACTERISTIC PHENOTYPE INCLUDES RHIZOMELIC SHORTENING OF THE EXTREMITIES, AND AFFECTED INDIVIDUALS HAVE AN INCREASED RISK OF MORTALITY IN EARLY CHILDHOOD AND SUFFER FROM SPINAL PATHOLOGIES INTO ADULTHOOD. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF ACHONDROPLASTIC PATIENTS AND EMPHASIZES THE IMPORTANCE OF THE INTERPROFESSIONAL TEAM IN THE DIAGNOSIS AND TREATMENT OF ASSOCIATED CONDITIONS IN CHILDREN WITH THIS DISORDER.