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Achondroplastic Dwarfism
By: Keyon Harrison
What is Achondroplastic Dwarfism?
 Is a genetic disorder of bone growth, and
is the most common cause of
disproportionately short limbs (arms and
legs).
 Achondroplasia is inherited as a
autosomal dominant trait affecting boys
and girls equally.
 Most cases of this disease are due to
unusual mutations in the genes.
What are the causes of
Achondroplastic Dwarfism?
Cause 1: genetic
mutation of the
fibroblast growth
factor.
Cause 2: Inherited from
a parent with the
condition.
What happens???
 Achondroplasia is caused by
mutations in the FGFR3 gene.
Two specific mutations account for
approximately 99% of
Achondroplasia. The FGFR gene
is comprised of 2,520 bases. In a
normal (non-mutated) gene, base
number 1138 is guanine (G). In
most individuals with
achondroplasia (98%), this
guanine (G) has been replaced
with adenine (A). In a small
number of individuals with
achondroplasia (1%), this guanine
(G) has been replaced with
cytosine (C). Both of these small
substitutions cause a change in
the fibroblast growth factor
receptor (FGFR) that affects the
function of this receptor.
Achondroplastic Dwarfism
What are the symptoms?
 Formation of a short stature
 An Average size trunk
 Short arms and legs with particularly short upper
arms and thighs.
 An Enlarged Head.
 Fingers are typically short.
Health Problems?
 Breathing disorders. (apnea)
 Obesity
 Recurrent ear infections (otitis media)
 Crowded or misaligned teeth
 Small back bones
 Flat feet
 A trident hand
 Loose joints Poor muscle tones
Diagnosis?
 The diagnosis can be
based on physical
features which are mostly
evident at birth.
 Diagnosed through other
imaging techniques…….
 Also Diagnosed before
birth which is
accomplished by
examining cells.
Treatment??
 There are no
treatments that will
fully cure
Achondroplastic
Dwarfism.
 There are treatments
that can help with
symptoms and
complications that
may come with the
disease.
PREVENTION
Interesting facts!!
 About 80% of cases on Achondroplastic




Dwarfism are not inherited.
Most Achondroplastic Dwarfs have leg problems
and may even lose function in.
A person with Achondroplasia have a 50%
chance of passing the gene on to a child.
Fathers that are older than 45 have a higher
chance of having children that inherit the
condition.
Was discovered in 1994.
Little People big world!
Work Cited
 University of Virginia, "Diabetes & Other
Endocrine and Metabolic Disorders ." Health
topics. February 2004. 30 Jul 2007
<http://www.healthsystem.virginia.edu/uvahealth
/peds_diabetes/achondro.cfm>.
 Emed TV, "Cause of Achondroplasia."
Achondroplasia. November 7 2006. 31 Jul 2007
<http://bones.emedtv.com/achondroplasia/cause
-of-achondroplasia.html>.