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Skeletal Dysplasia (Dwarfism)

Skeletal Dysplasia (Dwarfism). By, Marissa Spallino and Kerianne Noonan. Origin of SD. “ Dys ”= Greek: meaning ill or bad. “ Plasia ”= Latin: growth, cellular multiplication. “ Skelet ”= Referring to the spine. “al”= Latin : of the kind, or pertaining to. . Intro.

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Skeletal Dysplasia (Dwarfism)

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  1. Skeletal Dysplasia (Dwarfism) By, Marissa Spallino and Kerianne Noonan

  2. Origin of SD • “Dys”= Greek: meaning ill or bad. • “Plasia”= Latin: growth, cellular multiplication. • “Skelet”= Referring to the spine. • “al”= Latin: of the kind, or pertaining to.

  3. Intro • Dwarfism is a genetic condition affecting bone and cartilage growth. • Hundreds of conditions under the topic of Skeletal Dysplasia, the most common being Achondroplasia . • Skeletal Dysplasia is an abnormal difference in the size and shape of the legs, arms, trunk, or skull. • 1 in every 26,000-40,000 births.

  4. Cause • Inherited condition caused by many different genetic mutations in the FGFR3 gene. • The gene instructs the body to make a protein necessary for bone growth and maintenance. • Most of the cartilage doesn’t convert to bone.

  5. Symptoms • Shortening in bones of the legs and arms • Bowed or fractured bones • Abnormal ribs • Asymmetric bone growth • Irregular thickened or thin bones • Large head • Stubby fingers • Scoliosis • Visually different in society

  6. Treatment • No cure. • Every case in evaluated differently. • Surgical procedures to correct abnormal bone growth if possible. • Some children are given growth hormones. • PT to help with muscle soreness and tightness in arms, legs, and spine.

  7. Prognosis • Not life threatening. • ¼ of fetuses with a Skeletal Dysplasia will be still born. • 30% will die in the first six weeks after birth. • Complications with lung and heart diseases can shorten life span. • However, many end up living full and normal lives.

  8. Research • ESDN= European Skeletal Dysplasia Network • To understand the molecular genetics and cell-matrix pathophysiology of skeletal dysplasia. • The method of this project consists of three components. • 1) Patient ascertainment and comprehensive clinical and radiographic diagnosis. • 2) Molecular genetics and genetic heterogeneity. • 3) Molecular cell pathology and structure/function relationships.

  9. Works Cited • "Skeletal Dysplasias." The Children's Hospital of Philadelphia. N.p., May 2012. Web. 13 May 2014. • Dwarfism." Causes. Mayo Clinic, 27 Aug. 2011. Web. 13 May 2014. • Cafasso, Jacquelyn. "Skeletal Dysplasia." Medical Information & Trusted Health Advice: Healthline. Healthline, 7 June 2013. Web. 13 May 2014. • "European Skeletal Dysplasia Network." European Skeletal Dysplasia Network. N.p., n.d. Web. 13 May 2014.

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