What is achondroplasia?

Achondroplasia affects ossification

(the converting of cartilage to
bone) especially in the legs and
arms. This causes all people with
this disease to be extremely short,
legally classified as a dwarf.
Affected people also have large
foreheads. Symptoms besides
affected height can include apnea,
recurring ear infections, & obesity.
Achondroplasia by itself will not
affect intelligence. It is very rare
and affects 1 in 40,00 children.

What causes it?

Achondroplasia is caused by a
gene mutation in the fibroblast
growth factor receptor 3 (FGFR3)
gene. It is a deletion that affects
the sequence of proteins (for
specifics, see specifics about
gene mutations). It is a
dominant gene that is autosomal
(meaning that either parent can
pass it on to a child of either
gender). 80% of people with
achondroplasia have averagesize parents, and their gene
mutation occurred on its own.
The other 20% inherited the

genes from one or two parents

with the gene disorder. Children
with two altered copies of the
gene often are born stillborn or
die shortly after birth.

SOURCES:

"Achondroplasia." - Genetics
Home Reference. HONcode, 27
Jan. 2014. Web. 2 Feb. 2014.
<http://ghr.nlm.nih.gov/condition/
achondroplasia>
"Achondroplasia." Look For
Diagnosis. N.p., n.d. Web. 3 Feb.
2014.
<https://lookfordiagnosis.com/me
sh_info.php?
term=achondroplasia&lang=1>.
"FGFR3." - fibroblast growth factor
receptor 3. N.p., n.d. Web. 2 Feb.
2014.
<http://ghr.nlm.nih.gov/gene/FGF
R3>.

LEARN MORE:

Go to Little People of
Americas website

(www.lpaonline.org) if you
want more information
about living with
achondroplasia. Members
can get discounts &
references to
achondroplasia specialists,
& qualify for scholarships.

ACHONDROPLASIA
Understanding, living, and
coping with it

Specifics about gene

mutations:

Twin boysone diagnosed with

achondroplasia, the other without

By Violet Frohlich, period 6

Example of a Pedigree
(affected family tree)

In the picture above, squares

represent males and circles
represent females. Black shapes
represent a person with
achondroplasia. The gene is being
passed down through affected
offspringwe assume that the
source of the altered gene
occurred with a random mutation
with no recent affected ancestors.

How can I tell if I have

achondroplasia?

Its evident from before birth, but

there are gene tests for parents to
take that can determine whether
or not their child will have this
disorder. These tests involve XRays to analyze the bone
structure of the fetus. There are
options for blood tests that would
look for the genetic abnormality
associated with achondroplasia.

The FGFR3 gene (mentioned in

what causes it?) creates the
protein that mantains bone and
tissue growth. Ordinarily, it
interacts with specific growth
factors outside the cell to the
growth. Two mutations occur
during protein sysnthesis that
lead to the same result: the amino
acid glycine is replaced with
arginine at protein position 380.
This makes the receptor too
active, which leads to
disturbances in bone growth.

X-Rays of a child with

achondroplasia

How will having

achondroplasia affect
my everyday life?

Side effects can include apnea

(when breathing stops for short
periods) and ear infections,
ailments which affect average
people. Obesity is also a problem
for people with acondroplasia.
Achondroplasia without the side
effects is just like living regular
life, only with a major height
differenceyou might have more
of a problem reaching normal
size surfaces and shelves or
finding clothes that fit. There is no
treatment available right now for
people with achondroplasia, but a
company called BioMarin is

working on a test drug (BMN-111)

that would slow down bone
growth and increase other
receptors. This medicine, tested
on lab animals, restored bone
growth for mice with
achondroplasia, and also
increased growth in mice without
it. The medicine, if released,
would be given at regular
intervals to someone still growing.
Even without treatment, people
with this disorder are able to lead
normal, happy lives.