Achondroplasia

A Genetic Disorder

Genetic Transmission

Achondroplasia is a dominant allele which means that even if the person only has one affected allele they will still suffer from the disease.

Around 80% of cases involve a person with normal sized parents and a mutation that occurred in the FGFR3 gene. In the rest of the cases they person received the gene from one or more parents.

"Achondroplasia." Genetics Home Reference. U.S. National Library of Medicine®, May 2012. Web. 07 Jan. 2015. <http://ghr.nlm.nih.gov/condition/achondroplasia>.

Life Expectancy & Treatments

The average life expectancy for someone with achondroplasia is ten years less than the average human.

http://www.mcrh.org/Achondroplasia/383.htm
~Doctors can attempt to change the way the bones are growing.

~Doctors can stabilize the growth of the spine.

~Increasing the size of the opening in bones of the spine to reduce pressure on the spinal cord.

~Placing a shunt to remove excess fluid around the brain, if hydrocephalus occurs.

~Surgery can also be performed by a specialist. .

~Control of weight, to prevent some severity of joints, and back.

http://www.medicinenet.com/achondroplasia/page2.htm

http://www.mayoclinic.org/diseases-conditions/dwarfism/basics/treatment/con-20032297


"How Long Do People Who Have Achondroplasia Live ?" - Mcrh.org. N.p., n.d. Web. 19 Jan. 2015.

"Achondroplasia Symptoms, Causes, Treatment - How Is Achondroplasia Diagnosed? - MedicineNet." MedicineNet. N.p., n.d. Web. 18 Jan. 2015.

"Dwarfism." Treatments and Drugs. N.p., n.d. Web. 17 Jan. 2015.

Interesting Facts

-As an adult, one with a form of dwarfism is under 4' 10"

-Achondroplasia causes about 70% of all dwarfism

-Most Achondroplastics are double jointed. This is caused by loose ligaments.

-Achondroplasia is a greek words translated as "without cartilage formation"

-One with achondroplasia usually has normal intelligence.

-The appearance of achondroplasia is apparent at birth.

http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v%3Aproject=medlineplus&query=achondroplasia

http://megeve0.tripod.com/id1.html


"Interesting Facts." Interesting Facts. N.p., n.d. Web. 19 Jan. 2015.

"MedlinePlus - Search Results For: Achondroplasia." MedlinePlus - Search Results For: Achondroplasia. N.p., n.d. Web. 19 Jan. 2015

Symptoms/Diagnosis/Frequency

Symtoms:


  • The average height of an adult male with achondroplasia is 4 feet, 4 inches

  • The average height for adult females is 4 feet, 1 inch

  • Characteristics include an average-size trunk, short arms and legs with particularly short upper arms and thighs,

  • Limited range of motion at the elbows

  • An enlarged head with a prominent forehead

  • Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance

  • Episodes in which breathing slows or stops for short periods (apnea)

  • Obesity

  • Recurrent ear infections

  • permanent sway of the lower back and bowed legs

  • Front-to-back curvature of the spine and back pain

  • Spinal stenosis, which is a narrowing of the spinal canal that can pinch the upper part of the spinal cord

  • Hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities


Diagnosis:


  • Some characteristics of achondroplasia are detectable during an ultrasound (hydrocephalus or an abnormally large head)

  • Genetic tests

  • Look for the defective FGFR3 gene in a sample of amniotic fluid

  • Your doctor can diagnose your child by looking at his or her features

  • X-rays to measure the length of your infant’s bones

  • Blood tests may also be ordered to look for the defective FGFR3 gene.


Frequency:


  • 1 in 25,000 births


"Achondroplasia." Genetics Home Reference. N.p., n.d. Web. 04 Jan. 2015.