Our Lady of Fatima University

Valenzuela Campus

General Biology 2

Dwarfism/Skeletal Dysplasia or Achondroplasia

Presented by:
Givera, Cherry Ann
Gopaoco, Michael Gabriel
Guevarra, John Jacob
Guevarra, Ron Harper B.
Ingreso, Margero
Jose, Mark Eric
Laurenciano, Luisa
Luzano, Mary Grace
Magsino,Johnray
Manay, Sonnie
Introduction
Skeletal dysplasia are a heterogeneous group of disorders characterized by an inherent
abnormality in the growth or remodeling of cartilage and bone.They affect the skull,spine and
extremities at varying degrees. Dwarfism has many types: One of this is Skeletal Dysplasia
Skeletal Dysplasia has a type also one of this is Achondroplasia(Our Specific Topic) don't forget
dwarfism is broad that 200 specific conditions.
The Term Achondroplasia,meaning lack of cartilage formation,was first used by Parrot in
1878.ACH is the most commonly occurring abnormality 1 in 20,000-30,000 live births.This
disorder is a type of short-limbed dwarfism or Skeletal dysplasia it’s means the cartilage is not
durable elastic tissue that makes up a large part of the skeleton during early
development.However,in Achondroplasia,the problem is not only the formation of cartilage but
also the transformation to bone(a process of ossification) especially in the long bones of the arms
and legs,it categorized as part of disproportionate dwarfism it means that has an average size
torso and shorter arms and legs or a shorter trunk with longer limbs,in proportionate dwarfism
the body parts are proportionation but reduced.This Genetic disorder is characterized by an
unusual large head(macrocephaly),short upper arms(rhizomelic dwarfism)and short stature(adult
height about 4 feet). Achondroplasia does not typically cause diminished or impaired mental
abilities.If the bones connecting the head and neck do not compress the brainstem or upper spinal
cord(craniocervical junction compression),the life expectancy is close to normal.
The ACH is inherited in a autosomal dominant pattern which means that one copy of the
altered Gene in each cells sufficient to cause the condition.Nearly 80 percent of people with
ACH have average parents;these cases are result of new mutation in the FGFR3 Gene.In the
remaining cases, Achondroplasia patients have inherited an altered FGFR3 Gene form one or
two affected parents.People who inherit two different copies of this Gene generally have a severe
form of an Achondroplasia that causes extreme bone shortening and under developed rib
cage.These people either still born and die shortly after birth due to resporatory failure.
Achondroplasia is a short limited dwarfism. the word achondroplasia literally means "Without
cartilage formation. however in achondroplasia the problem is not in forming cartilage but in
converting it to bone(A process called oscification), particularly in the long bones of the arms
and legs.
On the other hand achondroplasia is similar to another skeletal disorder called
"Hypochondraplasia" but the features of achondroplasia tend to be more severe. All people with
achondroplasia have a short structure. the average height of an adult male with achondroplasia is
131 centimeters (4ft. 4inch.) And females is 124 centimeters (4ft. 1 inch.)
Commonly associated in their health problem with achondroplasia include episode in which
breathing slows or stops for shorts period (Apnea), Obesity and recurrent ear infections.
In childhood, individuals with condition usually develop a pronounced and permanent sway of
lower back and bowed legs.
Some affected people also develop abnormal front-to-back curvature of the spine and back pain.
A potentially serious complication of achondroplasia is spinal stenosis, Spinal stenosis is
associated with pain, tingling, and weakness in the legs that can cause difficulty with walking.
Objectives
Statement of the Problem:
1.What is the achondroplasia?
2.Which Gene affect Achondroplasia?
3.How achondroplasia Treated/Diagnosed?
4.What is the cause of achondroplasia?
5.Who has the chance to be affected by achondroplasia?
Objectives:
1.To determine achondroplasia.
2.To determine the genes affects achondroplasia.
3.To determine the treatment/diagnosis of achondroplasia.
4.To determine the cause of achondroplasia.
5.To Know the chances affected by anchondroplasia.
Case Report:

Name: Tan Suet Yee (Grace Yee)

Age: 18 years old
Occupation: Vlogger

Tan Suet Yee (Grace Yee) was a a beginner YouTuber

in Malaysia. Grace Yee Lives in Malaysia. She was 18
years old. According to the mother of Grace Yee when
she go to the doctor for an abnormal large head. Just
like the child who has hydrocephalus. The Doctor
Says ,the baby are possible on having Achondroplasia.
A Achondroplasia is a disproportionate morphism
where the arms and legs are shortened there's frontal
bossing in the forehead. Grace Yee's ring and Middle
finger was also point from each other or separated to each other. Time past by while grace was
growing she developed a bowed legs. Grace wants to be a famous and successful YouTuber
because after her SPM she tried to find a job to earn money but there was no one who wants to
hire grace. They all afraid or Scared that grace feels sad and feel anger because yee wants to be
like everybody else.
DISCUSSION:
Achondroplasia is bone growth disorder that cause excessive dwarfism.Dwarfism is
characterized as a short term adult disease.Individuals with Achondroplasia are short in statue
with small torso and short limbs.It is most common type of disproportionate dwarfism.Every
individuals with Achondroplasia are small in length.The average height of the adult male with
Achondroplasia is 131 centimeters (4feet,4inches)and the average height of the adult female is
124 centimeters(4feet,1inches) characteristics of Achondroplasia include medium torso,short
arms and legs with particularly short upper arms and thights,a limited range of elbow movement
and an unusual large head(macocephaly)with a prominent forehead.Fingers are typically short
and the ring finger and middle finger can vary,giving the hand a three pronged (trident)
appearance.People with Achondroplasia are in normal intelligence.
Achondroplasia is the result of specific changes(mutation)of the gene known as the receptor
growth factor for fibroblast 3(FGFR3).There is no clear family history of the disorder in most
patients.Increased father age(advance paternal age)may be a contributing factor in cases of
sporadic Achondroplasia.More often,family cases of Achondroplasia follow an autosomal
dominant pattern of Inheritance.Dominant genetic disorder arise when a single copy of the
abnormality Gene is required to induce a specific condition.An abnormal gene may be inherited
form either parent or may be the product of a mutated gene in the affected individual.The risk of
passing an abnormal gene from the affected parent to the offspring is 50percent for each
pregnancy.The risk for males and females is the same.
FGR3 Gene location

Cytogenetic location: 4p16.3

Molecular location on chromosome 4: base pairs 1,762,853 to 1,777,828
The FGFR3 gene is located on the short (p) arm of chromosome 4 at position 16.3.
More precisely, the FGFR3 gene is located from base pair 1,762,853 to base pair 1,777,828 on
chromosome 4.
At present,there is no way to prevent achondroplasia,as most cases arise from unexpected
new mutations.Physicians can treat certain children with growth hormones,but this does not
significantly affect the height of the child with achondroplasia.In some very specific
cases,lengthening of leg surgery may be considered.It is very important to check for bone
defects, especially in the back.Such issues may cause difficulty breathing and discomfort in the
legs.Cyphosis or hunch-back may nee to be fixed by surgery if it is not resolved before the child
starts walking.Theres another operation to make legs bend.
Achondroplasia may be confirmed before the birth by fetal ultrasound or after birth by
complete medical history and physical examination.DNA Testing is available prior to birth to
validate fetal ultrasound results for parents at elevated risk of having a child with achondroplasia.
Much of the Skeleton is composed of cartilage during early fetal development.Usually,the
majority of cartilage Ultimately turns to bone.But,if you have achondroplasia,a lot of cartilage
does not transformation to bone.This is due mutation in the FGFR3 gene.The FGR3gene
instructs the body to make protein essential for bone growth and maintenance.Mutation in the
gene for FGFR3 the protein is to be overactive it affectes the normal Skeletal growth.
 More than 80 percent of people with achondroplasia have a parents of ordinary size and are
born with achondroplasia as a result of a gene FGFR3 and it’s mutation,these parents have a
sling chance having another child with achondroplasia.A person who has achondroplasia who
plans to have a children with a partner who has no achondroplasia with each pregnancy.If both
parents have achondroplasia,they have a 25 percent chance of having a child with normal stature
together.Their chance to have an achondroplasia baby is 50 percent.Their chance of having a
child inheriting both parents gene mutation called homizygous achondroplasia a condition lead to
death is 25 percent.

Karyotype/Mode of Inheritance

Achondroplasia is inherited in an autosomal dominant pattern,which means that one copy of

the mutated gene in each cells is sufficient to cause the condition.Close to 80 percent of people
with Achondroplasia have normal parents;these cases results in new mutation in the FGFR3
gene.In the other cases,individuals with achondroplasia have inherited an altered FGFR3 gene
from one or two affected by the disorder.Individuals who inherited two altered copies of this
Gene usually have a severe form of anchondroplasia that causes extreme bone shortening and
undeveloped rib cage.Generally,these individuals are still born or die after the birth from
respiratory failure.
Afflicted Chromosomes

Anchondroplasia is caused by chromosome 4 mutation in the receptor 3 (FGFR3) fibroblast

growth factor.The gene FGFR3 instructs the body to produce a protein required for bone
growth.Bone growth is impaired due to mutations in this gene.
Clinical Features
Physical Characteristics
Those with Achondroplasia typically have normal levels of intelligence, they have physical
physical abnormalities, not psychological. A person with this disorder would likely have at birth:
 Short stature for age and sex is substantially lower than average.
 Long arms and legs compared to the height of the body, especially the upper arms and
thighs.
 Small hands with ring and middle fingers pointing away from each other as well.
 The head is comparatively big compared to the body.
 An unsually, big, prominent fore head.
 Underdeveloped facial area between the front and the upper jaw.
Children and adults with Achondroplasia may;
 Having trouble bending the elbows.
 Be obese.
 Recurring infections of the ear due to narrow passages in the ear.
 Develop bowed legs.
 Experience an irregular spinal curvature called cyphosis or lordosis.
 Develop new or greater stenosis of the spinal cord.

Mental Characteristics
Their symptoms are physical,not mentally so there’s no mental disability so they can live
normally like ordinary people by using their intelligence Achondroplasia isn't

 There's no cognitive handicap. Most dwarfism people have normal intelligence.

 A condition doesn’t needed mental cure. Most people with Achondroplasia having a long
live fulfilling lives for most little children.
 Somebody's incapable of believing a norms. Little kids, like their typical peers, go to
college, work,drive cars,marry, and raise children.

Treatments, Diagnosis and Recommendation:

Treatments

 Achondroplasia clinical and radiological symtoms are well characterized. For those with
standard findings, molecular genetic testing is usually not needed to confirm the
diagnosis. Where clinical features increase infant suspicion, X-ray (radiography) findings
can be used to help confirm the diagnosis.

 The goal of treatment is to maximize functioning and independence. Most dwarfism
treatments don't increase stature but may correct or relieve problems caused by
complications.

 Hormone therapy
For individuals with dwarfism due to growth hormone deficiency, treatment with
injections of a synthetic version of the hormone may increase final height.

 Ongoing health care

Regular checkups and ongoing care by a doctor familiar with dwarfism can improve
quality of life.

 Limb lengthening
Some people with dwarfism choose to undergo surgery called extended limb lengthening.

Diagnosis :

 How is achondroplasia diagnosed?

Your doctor may diagnose your child with achondroplasia while you’re pregnant or after
your infant is born.

 Diagnosis during pregnancy

Some characteristics of achondroplasia are detectable during an ultrasound. These
include hydrocephalus, or an abnormally large head. If your doctor suspects
achondroplasia, genetic tests may be ordered. These tests look for the defective FGFR3
gene in a sample of amniotic fluid, which is the fluid that surrounds the fetus in the
womb.

 Diagnosis after your child is born

 Your doctor can diagnose your child by looking at his or her features. The doctor may
also order X-rays to measure the length of your infant’s bones. This can help confirm a
diagnosis. Blood tests may also be ordered to look for the defective FGFR3 gene.

 The diagnosis is suspected on physical examination and confirmed by different age-

related radiological features. Management care by a multidisciplinary team will prevent
and treat complications, including cervical cord compression, conductive hearing loss and
thoracolumbar gibbosity. Weight counselling, psychosocial guidance and professional
integration programmes play an important role in the global quality of life of these
patients and their families.

Recommendation:

 Regular checkups and ongoing care by a doctor familiar with dwarfism can improve
quality of life. Because of the range of symptoms and complications, treatments are
tailored to address problems as they occur, such as assessment and treatment for ear
infections, spinal stenosis or sleep apnea.Adults with dwarfism should continue to be
monitored and treated for problems that occur throughout life and people with have that
must go in healthy lifestyle like eating vegetables and fruits and also it’s really important
to have an exercise or physical training to improve the physical ability and empower the
person physical limitations despite on his genetic disorder.

Related Disorder / Other Names of Syndromes:

 Dwafism can be caused by over 200 factors. Metabolic or harmonal disorders such as
growth hormone deficiency are causes of proportionate dwarfism.

 Genetics are the most common types of dwafism called skeletal dysplasia. Skeletal
dysplasias are condition. Cause extreme dwafism through excessive bone growth.

 Achondroplasia. Achondroplasia the most common form of dwarfism, occurs in around 1

to 40.000 babies out of 26.000 and is not noticeable at birth. People with achondroplasia
have their arms and legs relatively long trunk and shorter upper parts. Other
achondroplasia symtoms include:
  a large head with a prominent forehead

 a flattened bridge of the nose

 protruding jaw

 crowded and misaligned teeth

 forward curvature of the lower spine

 bowed legs

 flat, short, broad feet

 "double-jointedness"

Causes:

Most dwarfism-related conditions are genetic disorders, but the

causes of some disorders are unknown. Most occurrences of

dwarfism result from a random genetic mutation in either the father's

sperm or the mother's egg rather than from either parent's complete

genetic makeup.
_

 Disproportionate dwarfism

The characteristic features of the skull, spine and limbs shared by

most forms of disproportionate dwarfism result in some common

Problems:

Delays in motor skills development, such as sitting up, crawling

and walking

Frequent ear infections and risk of hearing loss

Bowing of the legs

Difficulty breathing during sleep (sleep apnea)

Pressure on the spinal cord at the base of the skull

Excess fluid around the brain (hydrocephalus)

Crowded teeth

Progressive severe hunching or swaying of the back with back

pain or problems breathing

Narrowing of the channel in the lower spine (spinal stenosis),

resulting in pressure on the spinal cord and subsequent pain or

numbness in the legs

Arthritis

Weight gain that can further complicate problems with joints

and the spine and place pressure on nerves

 Proportionate dwarfism

Proportionate dwarfism results from medical conditions present at

birth or appearing in early childhood that limit overall growth and

development. So the head, trunk and limbs are all small, but they're

proportionate to each other. Because these disorders affect overall

growth, many of them result in poor development of one or more body

systems.

Growth hormone deficiency is a relatively common cause of

proportionate dwarfism. It occurs when the pituitary gland fails to

produce an adequate supply of growth hormone, which is essential for

normal childhood growth. Signs include:

-Height below the third percentile on standard pediatric growth

charts

-Growth rate slower than expected for age

-Delayed or no sexual development during the teen years

References.

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Review. Citation on PubMed
Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012
Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health
supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83. Erratum in:
Pediatrics. 2005 Dec;116(6):1615. Citation on PubMed
Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment.
Curr Opin Pediatr. 2010
Horton WA. Recent milestones in achondroplasia research. Am J Med Genet A. 2006 Jan
15;140(2):166-9. Citation on PubMed
Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. Achondroplasia is defined by recurrent G380R
mutations of FGFR3. Am J Hum Genet. 1995;56:368–73.