Achondroplasia

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Achondroplasia

• Presented by Britt Shields and Connor Nash

2
Overview

• Achondroplasia is the common cause of dwarfism
• Approximately 1 in every 25,000 have this
  disorder
• The average height of a person with
  Achondroplasia is beween 4 feet and 4 feet 4
  inches

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Medical Research

• Achondroplasia is autosomal (sex cell) dominant.
  It is a result of an abnormality in the
  fibroblast growth factor receptor gene 3.
• Most people with Achondroplasia dont have
  parents with the disorder. This is because of a
  new mutation.
• To have Achondroplasia the person has to be
  heterozygous because a homozygous genotype is
  fatal.
• If a person has the disease they are
  heterozygous. People can get the disease from
  their parents or from a new muation.

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Heterozygous vs. Heterozygous
A a
25 chance of death, 50 chance of
Achondroplasia, 25 chance of normalcy
a a
AA (dead) Aa (Achondroplasia)
Aa (Achondroplasia) aa (normal)
A a
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Homo vs. Heterozygous
A a
50 chance of Achondroplasia, 50 chance of
normalcy
a a
Aa (Achondroplasia) aa (normal)
Aa (Achondroplasia) aa (normal)
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Diagnosis and Symptoms

• Before birth prenatal ultrasound, DNA testing
• Post-Birth If child shows hypotonia, delayed
  walking, obesity, abnormal skull structure or
  middle ear infections.
• Physical symptoms In addition to what is listed
  above shortness.
• Life Span Usually normal for heterozygous.
  Homozygous results in death. Average life span
  may be 10 years less than normal.

7
Treatment

• Currently there is no treatment. Human growth
  hormone does not work.
• Currently some limb-lengthening treatments have
  been started. They show promise for lengthening
  the limbs but some cases limbs become locked to
  their torso.

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Everyday Life

• The average height for an adult with
  achondroplasia is about 4 feet. Considering this,
  those with the condition require custom made
  tools to make every day tasks easier. Examples
  are stairs and steps to reach sinks, cabinets,
  drawers.
• Those with the disorder tend to have crowded
  teeth due to an irregular skull, making oral
  hygiene difficult.
• The irregular skull structure also leaves those
  with achondroplasia prone to inner ear infections
  due to fluid drainage.
• Also, due to the short stature of carriers,
  obesity is prevalent.
• Because obesity occurs often and there is a lack
  of muscle tone, it is very important for them to
  exercise frequently

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Limitations

• Due to the short stature of those with
  achondrioplasia, there are obvious limitations.
• Slow motor movements are one of the indicators.
• Of course, there are limits in what they can
  reach on shelves or counters.
• There are also driving limitations, however these
  can easily be solved by increasing the length of
  the pedals
• Also, since the leg bones typically become bowed,
  there is a limit on athletic activities that can
  be done.

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Helpful Organizations

• http//www.lprf.org The Little Peoples
  Research Fund
• http//www.lpaonline.org Little People of
  America
• http//www.restrictedgrowth.co.uk - Restricted
  Growth Association
• http//www.achondroplasia.co.uk/ - Achondroplasia
  UK

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Possibilities of a Cure

• Right now there is no treatment for
  Achondroplasia
• Though it is possible to recognize the condition
  before birth, there has been no development
  towards a cure. Surgery to extend the limbs can
  be performed, however this does not cure the
  condition and the limbs often become locked to
  the torso.
• All in all, it is possible that we will find a
  cure, but not for some time.

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Father and son with achondroplasia
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If 2 people with achondroplasia reproduced
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Typical Bone Structure