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Achondroplasia

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by

Sunny Hu

on 10 November 2014

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Transcript of Achondroplasia

Achondroplasia
What is Achondroplasia ?
Achandroplasia is an inherited genetic bone disorder. Achondroplasia is the most common dwarfism. It is when a child's arms and legs are proportionally shorter than the body length. In addition, children with this disorder tend to have a large head, however have a normal sized trunk. The average height of an adult male with this disorder is 52 inches, or 4 feet and 4 inches. The average height of an adult female with achondroplasia is 49 inch, or 4 feet and 1 inch.
Symptoms
- Small vertebral back bones which may lead to spinal chord compression in adolescence.
-Occasionally children may die suddenly in their sleep during infancy or early childhood. It is caused by the compression of the upper end of the spinal chord, which interferes with breathing
- Shortened arms and legs, and the upper arms and thighs tend to be shorter than the forearms and lower legs
- There may be frequent middle ear infections which my lead to deafness
- Loose joints
- Poor muscle tone
- Their feet may be flat, short, and broad
- Bowed lower legs
- Milestone developing such as walking may be delayed
- Trident hands, meaning extra space between middle and ring finger
- Large head size
- Prominent forehead
- Flattened nasal bridge
- The condition of lordosis which is a curved lower spine. It can lead to developmental of a small hump located near the shoulders, which usually goes away once the child starts walking
- Misaligned or crowded teeth
- Spinal stenosis
What causes Achondroplasia
Facts about Achondroplasia
Public Figures with this disorder
Public figures with achondroplasia are Jason Acuna or known as "Wee Man", Verne Troyer also known as "Mini Me", Tony Cox, a successful actor, and Michael Dunn who was in "Wild, Wild West".

Treatment
There is no specific cure but if any issues occur, your doctor can help reducing the pain. Antibiotics will be given to treat ear infections and surgeries can be performed in severe cases of spinal stenosis. Some doctors give their patients growth hormones to increase the growth rate of a child's bones. However, their long-term effects haven't been established yet. The life span on a person with achondroplasia is usually normal, unless they are homozygous achondroplasia at birth.
Achondroplasia is inherited by the autosomal dominant gene which causes abnormal cartilage formation. Autosomal inheritance means that the gene is located on one pair (chromosome pairs 1 to 22); both male and female can be affected. Achondroplasia is caused by a mutation in the FGFR3 gene, which makes a protein. The mutation in this gene causes dysfunctional protein which causes a disruption in growth known as Achondroplasia or dwarfism. Achondroplasia is not a mutagen involved disorder. 80% of those with this disorder have average sized parents due to a new mutation in the family. If both parents are diagnosed with this disorder, with each pregnancy, there is a 50% chance to have a child with achondroplasia.
- Achondroplasia occur 1 in 25,000 live births
- Men and women are both equally affected
- All ethnics have equal chance of having this disorder
-Appearance of this disease is at birth
-Infants who are homozygous achondroplasia only live to a few months
Testing and Screening
Citations
"Achondroplasia." Genetics Home Reference. Web. 5 Nov. 2014. <http://ghr.nlm.nih.gov/condition/achondroplasia.>.
"Learning About Achondroplasia." Learning About Achondroplasia. Web. 5 Nov. 2014. <http://www.genome.gov/19517823>.
"Achondroplasia." Columbia Neurosurgery. Web. 5 Nov. 2014. <http://www.columbianeurosurgery.org/conditions/achondroplasia/>.
"Famous Actors with Dwarfism." Famous Actors with Dwarfism List Listal RSS. Web. 5 Nov. 2014. <http://www.listal.com/list/famous-actors-actresses-dwarfism>.
"Achondroplasia." Achondroplasia. Web. 5 Nov. 2014. <http://www.belleville.k12.wi.us/bhs/health/disease-medicine/achondroplasia.htm>.
"Achondroplasia." Princeton University. Web. 5 Nov. 2014. <http://www.princeton.edu/~achaney/tmve/wiki100k/docs/Achondroplasia.html>.
"Frosty Watches ‘Jackass 2’ Then Interviews the Cast and Jeff Tremaine (The Director) |3195." Frosty Watches ‘Jackass 2’ Then Interviews the Cast and Jeff Tremaine (The Director) |3195. Web. 5 Nov. 2014. <http://collider.com/movie/archive_detail.asp/aid/3195/tcid/1>.
"Web. 5 Nov. 2014. <https://c1.staticflickr.com/7/6218/6351112802_26bef42ae1.jpg>.
Achondroplasia can be diagnosed most effectively in individuals by characteristics clinical (doctors look for specific warning signs) or X-rays findings. If the child is too young to be diagnosed with certainty or does not have the typical symptoms, they may get a genetic testing to identify a mutation in the FGFR3 gene. 99 percent of the people with achondroplasia can receive a genetic test to identify mutation in the FGFR3 gene. This testing is available in clinical laboratories.
Web. 7 Nov. 2014. <http://knowledge.skeletome.org/sites/default/files/file_uploads/3/7a5dd8ac0d22b86eea8987cb8ebc56.jpg>.
Web. 7 Nov. 2014. <http://images.lifescript.com/images/ebsco/images/si1931.jpg>.
"What Is Achondroplasia? :: DNA Learning Center." DNALC Blogs. Web. 8 Nov. 2014. <http://www.dnalc.org/view/15930-What-is-Achondroplasia-.html>.
"Interesting Facts." Interesting Facts. Web. 10 Nov. 2014. <http://megeve0.tripod.com/id1.html>.
By: Sunny Hu and Melina Chen
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