Achondroplasia

BY JACQUELINE CALDERON
 ● The name ACHONDROPLASIA was
chosen because the word achondroplasia
means “without cartilage formation”
● Who found it: Dr John Wasmuth
● When: Discovered in 1994

AChonDROPLASIA
ey-kon-druh-pley-zhuh

Alternate names:
● Dwarfism
● ACH
Type of Genetic Disorder
● Achondroplasia is a birth defect that affects a baby’s bone growth. (Birth
defect- is a health condition that is present at birth. Causing the change
in shape or function of one or more parts of the body.)
● Achondroplasia does not allow the cartilage to convert to the bone during
growth, especially the long bones of the arms and legs.(cartilage- is a
tough yet flexible tissue that makes up the skeleton during early
development.)
● This is caused by a mutation with a gene called FGFR3.(FGFR3 is involved
with converting cartilage to the bone. It produces a protein called
fibroblast growth factor 3 for the cartilage.) Only known gene involved
with this genetic disorder.
● The parent can obtain
this disorder with
mutations of the FGFR3
gene.
● People who only have
one normal FGFR3 gene
and a copy of the
defective FGFR3 gene
have achondroplasia.
● Only one parent has to
pass down a defective
FGFR3 gene for their
child to be diagnosed
with Achondroplasia.
Symptoms of Achondroplasia
All due to the lack of bone growth.

Ex. The average height of males with this genetic disorder

are about 4ft, 4 inches. Females with this genetic disorder
are also, about 4ft, 1 inches.

● Includes short arms and short legs with very limited

range of motion.
● Has an undeveloped area of the face between the forehead
and upper jaw.
● The symptoms are only physical
● Short Stature
 Effects of Achondroplasia
● Causes Spinal Stenosis(were it causes narrowing in the
spine. Putting pressure on your nerves and spinal cord
causing pain.)
● Daily tasks can become more difficult. Such as trying to
reach a book off a tall shelf.
● Health problems that come with it, such as breathing
difficulties.
● Not to mention when kids became teenagers with
Achondroplasia, they were often bullied and made fun of
because of this.
How doctors determine that a person has this
gene:
● Measurement: Doctors examine your
height to see if abnormal growth is shown.
They can tell by the trends in your growth
chart.
● Appearance: There are facial and skeletal
features that your doctor will look at.
● Some features are: shortened arms and
legs, abnormal hands, hunched back,
enlarged head, bow legs, and inward
curvature of lower back.
Specific tests used in diagnosis:
● You can do a diagnosis on your child while
you are pregnant or after your child is born.
● Only some characteristics can be seen
through an ultrasound. Through an
ultrasound abnormally large heads can be
detected.
● After child birth doctors can take x rays to
examine the lengths of your child's bones.
● Blood tests can also be taken to look for a
defective FGFR3 gene.
● Hormone tests can also be taken to look at
the growth hormones and other hormones
that contribute to growth and development.
Prognosis
● If the person with Achondroplasia survives the first year they will live a
normal life.
● If there are serious complications the average lifespan is 10 years less
than the general population.
● Some problems you face are middle ear infection and dental crowding.
● Besides these problems people with Achondroplasia live a normal life.
Achondroplasia only affects your bone growth not your intelligence.
Are treatments and medications available for Achondroplasia?
● This genetic disorder can not be cured. But there’s some
treatment that can help make things a little better for
that person.
● Such as hormones can be taken to increase height.
● Very rare cases surgery can help correct the spinal cord
and correct it.
 Current research-Little people of america
Little People of America is an organization that is trying to create a drug to
help increase bone growth. They are hoping that it will work with not only the
bones in your arms and legs but the bones in your spine,skull,face and chest.
This drug is called BMN-111, this drug will work as a molecule on the same
pathway as the FGFR3 gene. This drug would be injected into the skin daily
and would be used until the individual has stopped growing at the end of
puberty. If this drug ends up working the drug can increase overall height,
allow the bones to grow at a regular rate, increase the growth of the face, and
reduce ear infections.
Eleanor Symmonds- Won a gold medal
Olympics for the women’s 100m Freestyle in
Beijing.

She has the genetic disorder called

Achondroplasia but lives a normal life like any
other person.

She wants to go above and beyond in the

Olympics and that’s exactly what she did.
Story of Marco
Marco was the first ever in his family to has Achondroplasia. He never
realized he had this genetic disorder until he compared himself to his
brothers and sisters. By the time Marco was a teenager he was bullied. But
overtime this stopped affecting him. By the age of 14 Marco went to have
surgery for his spinal cord. He explained it was very painful. Now he’s living
a normal life. Years later he is now working as a Business Consultant in a
multinational company. Also volunteers at the Associazione per 'Informazione e
Lo Studio sull'Acondroplasia. Which is an Italian association for people with
Achondroplasia. Still to this day fighting this disease.
Cited Page:
“Dwarfism Treatments and Drugs.” Mayo Clinic. N.p, n.d Web. 21 Mar. 2017.

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

"Achondroplasia - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d.
Web. 22 Mar. 2017.

https://ghr.nlm.nih.gov/condition/achondroplasia

"Learning About Achondroplasia." National Human Genome Research Institute (NHGRI). N.p., n.d. Web. 22 Mar.
2017.

https://www.genome.gov/19517823/learning-about-achondroplasia/

Written by Rose Kivi Medically Reviewed by. "Achondroplasia." Healthline. N.p., n.d. Web. 22 Mar. 2017.

http://www.healthline.com/health/achondroplasia
Summary of our Genetic Disorder(Achondroplasia)
Achondroplasia is a genetic disorder that is a birth defect that affects a baby’s bone growth. ALso can be
known as Dwarfism. This genetic disorder was discovered by Dr. John Wasmuth in 1994. This genetic disorder
doesn’t allow the cartilage to convert to the bone during the early stage of growth. Especially the long legs
and arms. This is caused by a gene defective called FGFR3. FGFR3 helped produce proteins for the cartilage to
convert to the bone. Everyone has an FGFR3 gene but a parent that has a defective FGFR3 gene that has
Achondroplasia. Only one parent has to pass down the defective gene to their child to be diagnosed with
Achondroplasia. The symptoms reveal short arms and legs with very limited range of motion. Not to mention has
an undeveloped area of the face between the forehead and upper jaw. Luckily the symptoms are only physical and
not doesn’t affect your intelligence. This is all due to the lack of bone growth from FGFR3. The effects of
this genetic disorder are a little bit more sever. There can be pain caused by the spinal cord called Spinal
Stenosis were it puts pressure on your nerves and spinal cord. Also health problems such as breathing
difficulties. Daily tasks can be a bit of a challenge. Luckily now doctors can determine who has this gene by
measuring the height of people to see any abnormal growth. Or by appearance such as seeing abnormal features
like short arms,legs, enlarged heads,hunched backs, and abnormal hands. However there are specific tests used
to determine this beforehand now. Such as diagnosis on your child when your pregnant.But only few
characteristics can be seen through an ultrasound like abnormally large heads. After child birth doctors can
take X-rays on the child’s bones. Hormone tests can be taken to look at the growth hormones. Usually though
people who have Achondroplasia live a normal life. They just suffer from middle ear infections and dental
crowding. There are treatments that can make things more comfortable but no actual cure for this. One can take
hormones for height or rarely go get surgery to correct the spinal cord. But this surgery rarely fixes the
spine. Researchers today like the Little People of America is an organization that is trying to create a drug
that can help the bone growth to increase. They’re hoping this will help also the spinal cord and other parts
of the body. This drug is called BMN-111. But in the end these people still live a normal life.