Dwarfism


Dennis Gosnell, Assignment Editor

 Rebekah Fisher, health sciences major, presented a lecture on Dwarfism in the Lecture Hall.  Fisher said that there are 200 plus types of Dwarfism that falls into two categories.

 One category is that of the disproportionate.  People that fall into this category, generally have an average sized human torso and enlarged head with prominent forehead, while the arms and legs are shorter due to genetic mutation.

Achondroplasia is a genetic disorder of the bones and cartilage that is believed to occur because of a mutation in the FGFR3 genome.

“The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of Achondroplasia. Researchers believe that these mutations cause the protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.” – Genetic Home Reference; Achondroplasia, Nov. 14, 2011

“Eighty percent of Achon’s are born in a family of normal sized humans,” Fisher said.

Fisher’s original reason for making this presentation was for a class project in which students were asked to find and report about something they found interesting.

She said she was watching “Little People Big World” and “The Little Couple”, and thought it was interesting.

“Little People Big World” follows a family of both little people and normal sized people. Matt and Amy Roloff were born small.  They have four children, Jeremy and Zach who are twins (Jeremy is normal sized while Zach is little), Molly (normal sized), and Jacob (small).

Fisher talked about how fraternal twins come from separate eggs and sperm.  This enabled Jeremy to be normal sized, and Zach to be small, because they did not share the same genetic mutation.

The genetic mutation that causes Achondroplasia is random.  Normal sized parents can have children that have Achondroplasia, while parents with Achondroplasia can have children that are of a normal size.  Achondroplasia, according to http://ghr.nlm.nih.gov/condition/achondroplasia, is inherited through an autosomal dominant pattern.  Meaning that one copy of the altered gene in each cell is sufficient to cause the disorder.

The other category of dwarfism is that of the proportionate dwarf.  The body of a person is proportionate all around.  Perhaps the most famous and elusive form of this category of dwarfism is Primordial Dwarfism.

“There are only 100 people in the world that have this form of dwarfism,” Fisher said.

Doctors, because of the rarity of this disorder, are finding difficulty in devising the cause or genetic mutation that has occurred.  Thus, making it difficult to provide advisements as to how to prevent the occurrence of Primordial Dwarfism.

Primordial Dwarfism is a category of disorders with many subtypes. The exact definition can vary from one type to another, but all are defined primarily by extreme short stature at birth. Unlike many other forms of Dwarfism, Primordial Dwarfism differs in that all of the bones and organs of the body are proportionally smaller than in an average person.” – http://www.Primordialdwarfism.com

People with Primordial Dwarfism are as short or shorter than 4 ft. 10 in. tall.  Their bones are thin, and their joints are easily dislocated.  There are as many as six different symptoms and diagnoses that can be seen in Primordial Dwarfism, which can cause a misdiagnosis.  People with this genetic disorder have a relatively short life span and have many other difficulties during their lives.

Why is it important to know about what makes people who they are?  Someone somewhere once said, “understanding begets empathy.”  Knowing why someone is a certain way paves the way to push past differences that separate humanity from one another.

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