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Achondroplasia

Published on Nov 20, 2015

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PRESENTATION OUTLINE

ACHONDROPLASIA

KARLA LOPEZ

WHAT IS ACHONDROPLASIA

  • A disorder of bone growth that causes the most common type of dwarfism

CAUSES

  • Much of the skeleton is made up of cartilage,normally cartilage converts to bone,
  • but in people with achondroplasia a lot of the cartilage doesnt convert.
  • Also caused by mutations in the FGR3 gene(inherited)
  • In 80% of cases its not inherited

SYMPTOMS

  • Difficulty bending elbows
  • Struggle with obesity
  • Experience recurrent ear infections
  • Developed bow legs
  • Abnormal curvature of the spine

TREATMENT/CURE

  • There is no cure for achondroplasia
  • Antibiotics help control it but wont have much of an effect

DIAGNOSES

  • Detectable during an ultrasound
Photo by MamaT

HEIGHT

  • The average height for a male with achondroplasia is 4feet,4 inches
  • For females 4 feet, 1 inch