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 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.

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.

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

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.

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.

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.

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.