Achondroplasia

1
Achondroplasia

• By Tyler Denney, Avery Falick, Valerie Finstad,
  Matt Lien

2
Type of Genetic Disorder

• Achondroplasia is an autosomal dominant genetic
  disorder.
• Over 80 of people with Achondroplasia have
  parents that are totally unaffected!
• It is caused by a gene mutation.

3
Karyotype or Pedigree?
4
Inheritance

• 80 of people with Achondroplasia have parents
  who have normal height.
• The Achondroplasiacs have the disease because of
  a gene mutation.

5
Diagnosis

• It is based on typical physical features that are
  evident at birth.
• Sometimes you can see the symptoms through an
  Ultra Sound.

6
Symptoms

• Short arms and legs
• Large head
• Relatively long narrow torso
• Decrease in muscle tone
• Run behind schedule in learning motor skills
• Limited movement of joints

7
Treatment

• There is no real proven treatment
• It can be managed
• Monitoring of height, weight, and head
  circumference
• If there are any complications, they must be
  taken care of immediately
• Women with Achondroplasia should have a cesarean
  birth.

8
Life Expectancy

• Life span is normal
• Characteristics can cause increased risk of death
  at birth.

9
Genetic Counseling

• Scientist are looking for gene therapy to stop
  the disease before the child is born.

10
Current Research

• Trials are constantly being conducted.
• The tests determine effectiveness and safety of
  new drugs.

11
Interview With Sandy of the Little People of
America

• Q How would having Achondroplasia change your
  life?
• AIt limits it but, does not change it.
• Q In what ways would having Achondroplasia limit
  you in life?
• AAchondroplasia makes reaching for things
  difficult and it is hard to go out in public.

12
Graphics
13
Works Cited

• The Centre for Genetics Education.
  Anchodroplaisa and Other Short Stature
  Syndromes. 1/21/09 lthttpgenetics.com.au/fac
  tsheet/fs38. htmlgt.
• Francomano, Clair A. Achondroplaisia.
  1/16/09. lthttp//www.geneclinics.org/profil
  es/a chondroplasia/details.htmlgt.

14
Works Cited again

• Short. 1/23/09. lthttp//www.flickr.com/photos
  /pantagr apher/243/4068gt.
• Clinical Trials for Achondroplasia.
  1/23/09. lthttp//www.wrongdiagnosis.com/a/ac
  hondrplasia/trials.htmgt.

15
Works Cited again

• 1/23/09.lthttp//www.racematters.org/little
  peoplebigworld.htmgt.
• Worlds Smallest Person. 1/23/09.
  lthttp//www.oursoldiersvalor.com/pers
  onal/worlds-smallest-person/gt.
• Sandy of Little People of America. 1/26/09