References

Achondroplasia
How Common Symptoms
Achondroplasia What Individual children may undergo conditions Long Term Effects
is itfrequent
is the most
differently, but the main symptoms shown are
transpiring form of dwarfism, and it affects The problems with the lower back have a
males and females
Achondroplasia equally.
is the most This disorder
common type of shorterAchondroplasia
About arms and legs, mainly
(2016) in the upper arms and chance to cause back pain which could lead to
occurs in roughly
dwarfism. every 1 inis20000
Achondroplasia to 30000
a genetic thighs, https://www.genome.gov/Genetic-
larger head size, misaligned teeth, lordosis
trouble walking. People with the disorder also
births. 80%that
condition of affects
the timethe
theprotein
disorder happens as
fibroblast which can lead to kyphosis, small vertebrae canals,
Disorders/Achondroplasia#:~:text=Other have a high chance of their kids having
agrowth
reaction to a receptor.
factor spontaneous Thisgenetic
causes mutation;
the bowed lower legs, flat feet, trident hand, loose
%20health%20issues%20include achondroplasia, and if both parents have the
the other 20% is from the disorder
protein to function irregularly making thebeing joints, frequent ear infections, and delayed
%20obesity,leading%20to%20difficulty disorder there is a 25% chance of the child
inherited.
growth of Achondroplasia doesn’t
bone in the cartilage usually
of the growth developmental milestones. (Achondroplasia | JHM
%20with%20walking having homozygous achondroplasia, which will
cause deterioration
plate slow down. 20ortodeficiencies
50 percent of in people
mental 2022)
Achondroplasia | Johns Hopkins Medicine lead to the infant death shortly after birth.
ability.
born with(Achondroplasia
achondroplasia– willNORD have2021) (About Achondroplasia 2016)
(2022).www.hopkinsmedicine.org/health
neurological impairment. (Achondroplasia | /conditions-and-diseases/achondroplasia#
Johns Hopkins Medicine 2022) :~:text=What%20is%20achondroplasia
%3F,cartilage%20of%20the%20growth
%20plate
Related Disorders
Causes Diagnosis and Treatment
Achondroplasia: MedlinePlus Medical (2012)
Comparisons of different disorders are helpful
Achondroplasia is caused by a mutation in https://medlineplus.gov/ency/article/0015 The earliest achondroplasia can be diagnosed
to identify the form of dwarfism.
the fibroblast growthisfactor receptor 3 gene. 77.htm#:~:text=Achondroplasia%20is before birth if the baby’s arms and legs seem
Hypochondroplasia a genetic disorder
This mutation is negative and disproportionate
affects bone %20caused%20by%20a,6%20inches shorter than average and if its head is big. Most
attributed to a short build and
growth. This mutation mainly causes theis not %20(137%20centimeters). cases are not fully confirmed until after birth.
arms, legs, and feet. Most of the time it
long bonesuntil
in the arms Post-birth methods of diagnosing
identified early to and legs to be or even Achondroplasia: Symptoms, Treatment,
mid-childhood
shorter. Achondroplasia achondroplasia include x-rays, physical
adulthood. In some cases,can thealso be inherited
person with the Causes&Diagnosis(2021).www.hopkins
by parents if those parents have examination, prenatal examination, genetic
disorder may also have a large head,
achondroplasia because the disorder is
Health Concerns
medicine.org/health/conditions-and-
testing, MRI, and CT scan. There is no
protruding forehead, and limited rotation of diseases/achondroplasia#:~:text=What
autosomally dominant. If one parentchance
has that Achondroplasia is autosomal dominant so there is a determining treatment for the disorder other
elbows. In addition, there is a 10% %20is%20achondroplasia%3F,cartilage
achondroplasia than overseeing the symptoms, and there is no
mild retardationthere is aat50%
will be hand.chance
At some of the high chance that someone with achondroplasia will
%20of%20the%20growth%20plate
baby having the disorder. If both parents cure. Browning
(Achondroplasia: Symptoms 2021)
times, hypochondroplasia appears sporadically. have a child with the disorder. The other concerns Dylan
have achondroplasia the is chance of theforinfant Achondroplasia
include back and–leg
NORD
pain,(2021)
breathing
Other times the disorder inherited, it is Biology 1 Honors – Block 2
catching the disorder is increased to 75. https://rarediseases.org/rare-diseases/ach
problems(apnea), obesity, recurring ear infections,
autosomal dominant. (Achondroplasia –
(Achondroplasia: MedlinePlus Medical ondroplasia/
curved spine, bowed legs, excess fluid in your November 15
NORD 2021)
2012) brain(hydrocephalus), and obstructive sleep apnea.
(Achondroplasia: Symptoms 2021)