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Ancondroplasia Dwarfism
Ancondroplasia Dwarfism
Jordan Harris
Anatomy and Physiology I
TTH 11am
Dr. Jalowayski
Word Count: 2120
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Abstract
almost 80%, occur spontaneously. However, this gene is dominant and can be passed on
by a parent with the disorder. The mutated gene causes defects in the embryo’s cartilage
and torso and shorter than normal limbs. People with this disorder generally do not grow
taller than 55 inches tall. Defects in the spinal canal can cause serious problems with
treated, at this time there is no treatment or cure for the achondroplasia itself.
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Achondroplasia Dwarfism
achondroplasia, is actually a broader term that describes short stature in both adults and
children (Davidson 2007). Dwarfism in general is defined as adults who are four feet ten
inches or less (Carson-Dewitt 2006). Some people with achondroplasia will not even
grow past twenty-four inches in height and most are less than fifty-five inches tall
and limbs that are disproportionately short compared to their torso (Davidson 2007). The
term achondroplasia can be broken down; the “a” refers to a lack of, “chondro” refers to
cartilage, and “plasia” to formation (Murphy 2002). This type of dwarfism is the most
Chondodystrophies which are all disorders of the cartilage and therefore ultimately of the
bone (Carson-Dewitt 2006). Because the basic cartilage, which is the foundations of all
born formation, is defective in a fetus that has this condition the results are stunted bone
live births (Carson-Dewitt 2006). This form of dwarfism occurs among all races and
CAUSES
anyone who receives the gene for this disorder will show all the symptoms of
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achondroplastic dwarfism (Carson-Dewitt 2006). There are many things that can cause
the genetic abnormality that leads to achondroplasia. If one parent suffers from
achondroplasia they have a 50% chance of passing that gene onto their child (Davidson
2007). If both parents carry the gene they have a 25% chance of conceiving a child with
double dominant syndrome. They also have a 25% chance of having a child of normal
stature and a 50% chance of having a child with achondroplasia (Murphy 2002). Fetuses
with double dominant syndrome who received the mutated gene from both parents
usually die at or shortly after birth (Murphy 2002). The mutation that causes
achondroplasia has recently been identified and it is believed that it results from a small
mutation in the gene that contains the instructions for fibroblast growth factor receptor 3
also called FGFR3 (Travis 1995). FGFR3 controls the production of proteins needed for
skeletal development in the embryo (Travis 1995). This gene lies on one end of
chromosome 4 and it appears that a change in one single amino acid is responsible for
this disorder (Murphy 2002). The mutation replaces a glycine amino acid with an
arginine amino acid (Young 1998). The National Center for Human Genome Research in
Bethesda, MD has done research that shows that this nucleotide’s mutation rate is the
highest they have ever calculated (Travis 1995). They have not determined why this
occurs from a mutation on the FGFR3 gene, but it is of a different nucleotide (Travis
1995).
Because researchers have isolated the gene that causes achondroplasia doctors can
now offer pre-natal genetic counseling; this is especially important to parents who both
have achondroplasia to find out if they have passed two copies of the mutated FGFR3
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gene to their fetus (Travis 1995). As children with this abnormality rarely live beyond a
few months this genetic testing allows parents to choose early termination of the
pregnancy if they find out their child has double dominant syndrome (Murphy 2002).
However, offering this genetic testing does raise some ethical questions as members of
the Little People of America (LPA), an organization founded in 1957 to provide peer
support and education, worry that these screening techniques will be used to terminate
pregnancies with even a single copy of the defective FGFR3 gene (Murphy 2002).
parent, approximately 80% of the instances of this type of dwarfism occur from
correlation between advanced paternal age and this genetic mutation (Young 1998). This
is different in that many genetic defects are often linked to increased age of the mother
ANATOMICAL SYMPTOMS
possible to see the difference in proportion and size from a typical newborn. Often times
even at birth the head and trunk will be normally sized but the limbs will be subtly
disproportionate in size (Murphy 2002). The limbs are shorter than normal and the
bones are abnormally thicker (Carson-Dewitt 2006). The skull bone is not affected, but
the foramen magnum through which the spinal cord passes is often narrower than normal
and the spinal canal also becomes abnormally narrow down the length of the spine
(Carson-Dewitt 2006). Facial abnormalities may also occur and are characterized by a
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protruding jaw and prominent forehead (Murphy 2002). They also often have a nose
with a scooped out appearance called saddle nose and a swayed back caused by a
curvature of the spine (Carson-Dewitt 2006). The fibula bones of the lower leg are
overly long causing a bowlegged or otherwise deformed stance and there are also
sometimes deformities in the bones of the hands (Davidson 2007). The bones of the
lower leg often times require bracing to correct bowleggedness, a condition called
“windswept” when both legs bend in the same direction, or knock-knees (Murphy 2002).
They do however have greater than normal muscular strength (Davidson 2007).
PHYSIOLOGICAL SYMTPOMS
genetic disorder that was characterized by normal intelligence, and a reasonable level of
health (Young 1998). However, this view does not acknowledge the sometimes serious
medical problems, as well as functional problems, that often accompany this type of
dwarfism (Murphy 2002). There are many secondary medical issues arising from their
mortality rate more than double that of the general population (Young 1998).
Issues with the bones of the ear cause otis media, or ear infections, in over ninety
percent of children with achondroplasia by age two. If not promptly treated these ear
problems can lead to hearing loss. Approximately 38% of adults with achondroplasia
report hearing loss due to ear infections and speech development delay in 20% of
children (Young 1998). Sleep apnea is often a common problem arising from
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Neurological complications can arise due to the narrowing of the foramen magnum
pressing on the cervical cord and causing compression. This can cause sleep apnea and
paraparesis, which is weakness in the lower limbs (Young 1998). In severe cases surgical
decompression can help alleviate the cervical cord compression (Young 1998). In a
survey of 437 adult members of the Little People of America in response to questions
about problems caused by their achondroplasia: 43% reported sciatica or chronic back
pain, 21% experienced limitations due to paralysis, 35% arthritis, 40% chronic allergies
and sinusitis, 34% hearing problems, 30% sleep problems and 30% other chronic medical
problems directly related to their dwarfism (Goldberg 1996). This disorder does not
TREATMENT
At this time there is no treatment for the underlying genetic anomalies that cause
achondroplasia, however there are some treatments for the anatomical and physiological
symptoms that can accompany this disorder (Carson-Dewitt 2006). One treatment that
aims to partially correct the most obvious symptom of achondroplasia, short stature, is
the controversial limb lengthening surgery (LLS). This surgery was first attempted in
Russia in the 1950’s (Murphy 2002). The ultimate goal of this surgery is to add 12-14
inches of height. In order to achieve this effect the bones of the lower leg are surgically
broken and wires attached to an external apparatus, which hold the bone in place. Screws
are turned on this external apparatus gradually moving the bone apart and forcing the
bone to grow longer as the body heals the gaps (Murphy 2002). Often times this
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procedure is then repeated on the arms after the upper and lower bones of the leg are
lengthened. The whole process takes approximately three years and requires extensive
physical therapy and causes quite a bit of discomfort; patients undergoing this process
often have trouble sleeping at night (Murphy 2002). Complications can arise from these
surgeries including serious infections (Murphy 2002). Although there is not much
information of the long-term benefits and effects of this surgery, it is often recommended
by doctors (Goldberg 1996). Another treatment is the use of growth hormone to try and
increase the overall stature of the patient, but ultimately it appears it only speeds up the
growth process but doesn’t change the person’s overall height, even if administered under
all ages of development to monitor and try to prevent the neurological and respiratory
complications that can arise (Young 1998). Because of the particular higher rate of
every 2-3 months for the first 5 years of life and annually thereafter (Young 1998).
Although a laudable goal, not every family with a child who has achondroplasia will have
access that often to a pediatrician with that type of experience in the specialized fields of
there are no mental complications; so despite the physical and environmental limitations,
many people suffering from this disorder lead full and rewarding lives. Due to
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organizations like the Little People of America association, and the emergence of reality
programs like Little People, Big World; the general population of people are learning
more about this disorder and realizing that despite their physical challenges people who
have this disorder are short in stature, but not necessarily short in anything else.
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REFERENCES
Murphy, W. (2002). Of little people and brittle bones. New York: Lerner
Publishing Group.
Travis, J. (1995). Dwarfism gene under scrutiny. Science News. 148 (6), 89.
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