1. By, Marissa Spallino and Kerianne Noonan

2.  “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.  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.  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.  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.  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.  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.  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.  "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.