Genetic Disorders: 7th Grade

312days since
Due

Navigation

Recent site activity

Achondroplasia - Anastasia

  Hello,
 I am Anastasia and i'm studing Achondroplasia, the most common type of dwarfism. PLEASE COMMENT
 Achondroplasia is one of a group of disorders called chondrodystrophies or osteochondrodysplasias. . Achondroplasia is the most common type of dwarfism. Although achondroplasia literally means "without cartilage formation," the problem in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the longer bones.  FGFR3 is the only gene known ,at this point, to be assosiated with achondroplasia.  Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia. Achondroplasia is one of the oldest known birth defects. The frequency of achondroplasia is estimated to range from about 1 in 10,000 births in Latin America to about 12 in 77,000 in Denmark. An average figure worldwide is approximately 1 in 25,000 births.

http://www.moondragon.org/obgyn/graphics/achondroplasiacomparison.jpg
These two boys are twin brothers but  the boy on the right has Achondroplasia. this image is from http://www.moondragon.org/obgyn/graphics/achondroplasiacomparison.jpg
 

Symptoms
 The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include:
  • Abnormal hand appearance with space between the middle and ring fingers
  • Bowed legs
  • Decreased muscle tone
  • Disproportionately large head-to-body size difference
  • Prominent forehead
  • Shortened arms and legs (especially the upper arm and thigh)
  • Short stature (significantly below the average height for a person of the same age and sex)
  • Spinal stenosis
  • Shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs
  • Large head size with prominent forehead and a flattened nasal bridge
  • Crowded or misaligned teeth
  • Curved lower spine - a condition also called lordosis (or "sway-back") which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.
  • Small vertebral canals (back bones) - may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.
  • Flat feet that are short and broad
  • Poor muscle tone and loose joints
  • Frequent ear infections which may lead to hearing loss
  • Delayed walking (which may occur between 18 to 24months instead of around one year of age)
Before limb lengthening      In 4 months after Ilizarov-Veklich apparatus
Before and after photos of a boy who under went the leg lenthening treatment
Treatment

    There is currently no treatment for Achrondroplasia because in most cases random mutations occur. Many scientist have tried to give their patients growth hormones but they had little to no effect. In some specialized cases leg and arm lengthening surgery may be considered but is not normally done. Many Achondroplasia patients under go this prosceder for other reasons, primarily to look more proportionate. Although there is no cure for Achondroplasia there are several alernitive treatments used to help pain, stiffness, and the mobility of the paitent. Gluecosamine is used for joint tendon and muscle pain, and it's found in healthy cartilage. Willow bark and omega 3 Fatty acids were also shown to relive joint pain and stiffness. for new born babies,If the head is becoming too large, the doctor will test the child for hydrocephalus. If necessary, a neurosurgeon will insert a shunt to drain the excess fluid and relieve pressure on the brain.

photo

Photo by SUCHAT PEDERSON

 
Research
http://www.post-gazette.com/images/20000127mfgraf3.jpg
These two people are accually much older than they look. this pc is from http://www.post-gazette.com/images/20000127mfgraf3.jpg

There is currently no reasourses avalible.

 
http://video.google.com/videosearch?q=achondroplasia&oe=utf-8&rls=org.mozilla:en-US:official&client=firefox-a&um=1&ie=UTF-8&sa=N&tab=wv#
click here to see a video about achondroplasia!!!
Current Events
 http://bittenandbound.com/wp-content/uploads/2008/04/tiny-girl-photo-with-classmates.jpg this girl is the smallest in the world and she has achondropasi.

There are currently no current events in progress with the diesies Achondroplasia .

Genetics
    Achondroplasia is a a autosomal dominant trait, which means that Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%. However, most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition.The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).
http://www.sciencemuseum.org.uk/on-line/genes/images/1-3-5-1-4-2-1-1-1-3-0.jpg this image is from Science Museum or /www.sciencemuseum.org.uk
A Day In Life
Achondroplasia is one of the oldest and most common types of dwarfism in the world. Living with this disease can be particularly difficult for someone who has it and at times can be very frustrating, but for the most part these little people live normal lives.

7:00 am  - I turn off my alarm clock, get the step stool, brush my teeth make breakfast and hurry out the door.
8:00 am - I just make it on time for work, but my boss screams at me anyway.
10:30 am - Go into a meeting and some one makes a remark about me being short and ruins my day.
12:00 am - Lunch break.
3:00 pm - I get home and deside on weather or not I'm going to get that leg and arm lenthening surgery (because my self esteem is so low) but I deside not to.
4:00 pm - Take a nap.
6:00 pm - My whole family comes to dinner and my son got an F on his spelling paper so I scold him and send him to bed.
7:30 pm- I watch the news and fall asleep on the couch like I always do.
10:45 pm - I wake up ,get some water, get the step stool, brush my teeth and change into my pj's.
11:00 pm - Set my alarm clock, and go to sleep.


Vocabulary
Canal- an artificial tunnel or water way.
Cartillage- a firm whitish flexible connective tissue fount in various in the lyrynx and respiratory tract.
Autosomal- Any chromosome that is not a sex chromosome.
Aberrant - differing from the normal or accepted way.
Algorithms - A step-by-step problem-solving procedure.
ALPHA-FEROPROTIEN- A protein normally produced by a developing fetus.
Initiation - formal admission or acceptance into an organization.
De Novo - from the beggining
Zymogen-Any of a group of compounds that are inactive precursors of enzymes and require some change.
Bibliography
References
"summary." Achondroplasia. 9 jan 2006. University of Washington, Seattle. 23 Jan 2009 <http://www.geneclinics.org/profiles/achondroplasia/details.html>.

"Achondroplasia article." medicinenet. 2008. medicinenet.com. 23 Jan 2009 <http://www.medicinenet.com/achondroplasia/article.htm>.

h"Achondroplasia." MedicienePlus. 05 January 2009 . Medicineplus. 23 Jan 2009 <http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm>.

"Achondroplasia." university of virginia. 05 January 2009 . University of Virginia. 23 Jan 2009 <http://www.healthsystem.virginia.edu/uvahealth/peds_diabetes/achondro.cfm>.

"Achondroplasia." March of dimes. 05 January 2009 . March Of Dimes. 23 Jan 2009 <http://www.marchofdimes.com/professionals/14332_1204.asp>.

"Achondroplasia treatment." university of Maryland. university of Maryland. <http://www.umm.edu/ency/article/001577trt.htm>.

"Achondroplasia Overview." rVita. rVita. 22 Jan 2009 <http://www.rvita.com/conditions/achondroplasia.html>.

"Achondroplasia." Rxlist. Rxlist. 22 Jan 2009 <http://www.rxlist.com/achondroplasia/article.htm>.

"Achondroplasia ." Bbnet. Bbnet. 22 Jan 2009 <http://findarticles.com/p/articles/mi_g2601/is_0000/ai_2601000008>.

"Achondroplasia." icon. icon. 22 Jan 2009 <http://www.icongrouponline.com/health/Achondroplasia_Ph.html>.

Comments (16)

Annette Dolby - Dec 10, 2008 8:25 PM

hey this is good so far
keep it up!!!

Annette Dolby - Dec 10, 2008 8:26 PM

whos desies is this

Maya L.I. - Dec 12, 2008 2:51 PM

I love your page I got a feel for what the disorder is and how to reconize someone with Achondroplastic dwarfism.

Annette Dolby - Dec 13, 2008 10:53 AM

hey this is really good and it does give lots of info on the person's looks

Carina Salaiz - Dec 15, 2008 2:22 PM

great information anastasia!!!!!

Annette Dolby - Dec 15, 2008 6:52 PM

good job anastasia
keep working ur making good headway

Sophie V - Jan 3, 2009 4:38 PM

this looks really good. you got lots of facts. i'm sure it will be really good when you're done

sarah Rubenstein - Jan 12, 2009 6:20 PM

Good start. I like that you have started the different sections. Please make sure that you write things in your own words, some of the sentences can be found on other websites.

Larkin Murray - Jan 17, 2009 12:47 PM

cool anna its great try more color

Carinn C - Jan 20, 2009 5:13 PM

I love the color that you added, it makes it look so much more fun! Great information on the persons' looks, i'm totally sure it's gonna be AWESOME!

Annette Dolby - Jan 21, 2009 10:37 AM

goood job, keeping working to get it done by friday

Kylie Viola - Jan 21, 2009 11:06 AM

Love the rainbow , but could use more, keep up the good work

Annette Dolby - Jan 22, 2009 7:23 PM

good job

Lauren Clark - Jan 22, 2009 7:43 PM

Looks great! Keep of the good work!

Maya L.I. - Jan 23, 2009 10:08 PM

Great work anastasia. You've come a long way.

Maya L.I. - Jan 23, 2009 10:20 PM

Maybe include the ages of the people in the pictures.