Genetic Disorder: Achondroplasia

Achondroplasia: Dwarfism

Bibliography

by Emily Lam, Janice Ren, and Hang Fong

What is achondroplasia?. (n.d.). Retrieved from http://www.sciencemuseum.org.uk/WhoAmI/FindOutMore/Yourgenes/Whatcausesgeneticconditions/Whatisdominantinheritance/Whatisachondroplasia.aspx

Fgfr3 - fibroblast growth factor receptor 3 . (2013, May 6). Retrieved from http://ghr.nlm.nih.gov/gene/FGFR3

Achondroplasia. (2013, May 6). Retrieved from http://ghr.nlm.nih.gov/condition/achondroplasia

Frequently asked questions - growing stronger. (2012). Retrieved from http://www.growingstronger.org/frequently-asked-questions.html

Achondroplasia|baby|birth defects|march of dimes. (2008, September). Retrieved from http://www.marchofdimes.com/baby/birthdefects_achondroplasia.html

Tidy, C. (2010, February 19). Achondroplasia. Retrieved from http://www.patient.co.uk/doctor/Achondroplasia.htm

Achondroplasia. (1996). Retrieved from http://home.comcast.net/~dkennedy56/dwarfism_hgfachon.html

Fergus, K. (2002). Achondroplasia. Retrieved from http://health.yahoo.net/galecontent/achondroplasia/3

Achondroplasia in children. (2007, April, 16). Retrieved from http://www.pediatriconcall.com/forpatients/commonchild/genetic_disorders/achondroplasia.asp

Achondraplasia. (2009, November, 2). Retrieved from

http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html

Achondroplasia Treatment. Retrieved from http://www.thirdage.com/hc/c/achondroplasia-treatment

Achondroplasia (Dwarfism). Retrieved from http://geneticcounselorofdwarfism.blogspot.com/p/10what-is-everyday-life-like-what-is.html

Karyotype-Janice

in this picture there are 2 chromosomes missing

Statistics Incidence

Cause of Disorder

a. 1 in 10,000 to 30,000 births

b. About 15,000 with achondroplasia in the United States.

c. 1 in 15,000 to 40,000 births worldwide, about 65,000 with the disorder.

d. There is no specific race or gender that is susceptible to the disorder. The frequency of the disease is equal in all races and genders.

Genetic Disorder

• Achondroplasia is autosomal.
• The disorder can be passed on from a parent or a child can get it from a mutation in a gene.
• It is a dominant trait.

Chromosomal Disorder

• No lack of chromosomes or extra.
• The altered gene FGFR3 causes the disorder.
• FGFR3 is located on the 4th chromosome pair.
• Chromosome 4 is affected.
• If a child gets 2 copies of the altered gene, they usually don't survive after birth.

Tidy, C. (2010, February 19). Achondroplasia. Retrieved from http://www.patient.co.uk/doctor/Achondroplasia.htm

Frequently asked questions - growing stronger. (2012). Retrieved from http://www.growingstronger.org/frequently-asked-questions.html

Achondroplasia. (1996). Retrieved from http://home.comcast.net/~dkennedy56/dwarfism_hgfachon.html

Fergus, K. (2002). Achondroplasia. Retrieved from http://health.yahoo.net/galecontent/achondroplasia/3

What is achondroplasia?. (n.d.). Retrieved from http://www.sciencemuseum.org.uk/WhoAmI/FindOutMore/Yourgenes/Whatcausesgeneticconditions/Whatisdominantinheritance/Whatisachondroplasia.aspx

Fgfr3 - fibroblast growth factor receptor 3 . (2013, May 6). Retrieved from http://ghr.nlm.nih.gov/gene/FGFR3

Achondroplasia. (2013, May 6). Retrieved from http://ghr.nlm.nih.gov/condition/achondroplasia

History and Current Research

History:

• spanish royal family

current research:

• Trials are constantly being conducted.
• Finding drugs that will be effective.

Pedigree

Punnett Square

Normal Parent

Affected Parent

Achondroplasia

(Dwarfism)

Symptoms

• Usually noticeable at birth
• Head is large and forehead is prominent
• Hands and feet look big, but fingers and toes are short and stubby
• Weight control problems
• Bowed legs
• Dental problems (overcrowding of teeth)
• Spinal compression
• Fatigue, pain, and numbness in the lower back and spine
• Intelligence however is normal

Signs

Achondraplasia. (2009, November, 2). Retrieved from

http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html

Emily Lam, Janice Ren, and Hang Fong

Miss Bizier

Period 2

5/30/13

Baby - Large head, short arms, legs, and loose joints = Slow to sit, stand, and walk alone

Child - Upper arms and thighs are more shortened than the forearm and lower legs. Large head, teeth may be crowded and or poorly aligned

Person - Straight upper back with curved lower spine. Short hands with stubby fingers with weakened joints. Lower legs may be bowed, feet short, broad, and flat.

Achondroplasia in children. (2007, April, 16). Retrieved from http://www.pediatriconcall.com/forpatients/commonchild/genetic_disorders/achondroplasia.asp

Quality of Life

Graphic/Image

Derived from the Greek word

"Without cartilage formation"

They can live a long healthy normal life, they're able to do many things anyone else can. Except that sometimes they need a little boost to help them, for example they need foot stools. Driving cars can be adjusted for them.

A hump on the upper back and also lower back pain.

Diagnosis/Detection

Some organizations that can help family or patient:

Little People of America - http://www.lpaonline.org

Dwarf Athletic Association of America - http://www.daaa.org/DAAA_home.html

[Print Photo]. Retrieved from http://peterswordoftheday.files.wordpress.com/2008/09/achondroplasia-1.jpg

[Print Photo]. Retrieved from http://uvahealth.com/Plone/ebsco_images/7290.jpg

A person can be diagnosed with achondroplasia before birth by looking at ultrasound or after birth by looking at the baby's features on an x-ray for a prominent forehead and short limbs.

Achondroplasia (Dwarfism). Retrieved from http://geneticcounselorofdwarfism.blogspot.com/p/10what-is-everyday-life-like-what-is.html

Twins: One normal and one with achondroplasia.

a. Genetic testing can be done to detect achondroplasia.

b. The testing is done with blood after birth.

c. If both parents have the disorder, prenatal testing can be done to rule out achondroplasia.

A family with achondroplasia

[Print Photo]. Retrieved from

http://digitaljournal.com/article/313182

Frequently asked questions - growing stronger. (2012). Retrieved from http://www.growingstronger.org/frequently-asked-questions.html

Achondroplasia|baby|birth defects|march of dimes. (2008, September). Retrieved from http://www.marchofdimes.com/baby/birthdefects_achondroplasia.html

Treatments/Cures

No actual treatment that can cure this disease

-Monitoring of height, weight, and head circumference should be managed

-Spinal stenosis and spinal cord compression

-Any complications must be reported immediately

-Sometimes surgery is needed for skeptical deformities

Achondroplasia Treatment. Retrieved from http://www.thirdage.com/hc/c/achondroplasia-treatment

Achondraplasia. (2009, November, 2). Retrieved from

http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html