Dwarfism

Dwarfism
Definition
Growth hormone deficiency is also known as dwarfism or pituitary
dwarfism, this is a condition caused by insufficient amounts of growth
hormone in the body .
Dwarfism is a medical or genetic condition that causes someone to be

considerably shorter than an average-sized man or woman. The average
height of an adult with dwarfism is 4 feet, but dwarfism could apply to an
adult who is 4’10” or shorter.
The term “short stature” is often preferred over “dwarfism” or “dwarf.”

The term “little person” or “little people” is often used, too. One of the
largest advocacy groups for people with dwarfism. is the
Little People of America (LPA). “Midget” isn’t an acceptable label.
Common Types of Dwarfism:
 Proportionate dwarfism- When the head, trunk, and limbs are all proportionate to each
other, but much smaller than those of an average-sized person, the condition is known as
proportionate dwarfism. This type of dwarfism is often the result of a hormone
deficiency. It can often be treated with hormone injections while a child is still growing.
As a result, someone born with proportionate dwarfism may be able to reach an average
height or get close to it.
 Disproportionate dwarfism-This is the most common kind of dwarfism. As the name
suggests, it’s characterized by having body parts that are disproportionate to each other.
For example, a genetic condition called achondroplasia results in arms and legs that are
significantly shorter than those of a person of average size, but the trunk is like that of
someone unaffected by dwarfism. In some cases, the head of a person with
disproportionate dwarfism may be slightly larger than that of a person without dwarfism.
Signs and Symptoms
Disproportionate Dwarfism:
 Almost all people with disproportionate dwarfism have normal intellectual capacities. Rare exceptions are usually the
result of a secondary factor, such as excess fluid around the brain (hydrocephalus).
 The most common cause of dwarfism is a disorder called achondroplasia, which causes disproportionately short
stature. This disorder usually results in the following:
 An average-size trunk
 Short arms and legs, with particularly short upper arms and upper legs
 Short fingers, often with a wide separation between the middle and ring fingers
 Limited mobility at the elbows
 A disproportionately large head, with a prominent forehead and a flattened bridge of the nose
 Progressive development of bowed legs
 Progressive development of swayed lower back
 An adult height around 4 feet (122 cm)
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
PATHOPHYSIOLOGY
 Pituitary dwarfism, caused by a deficiency of pituitary

growth hormone, is the chief endocrine form of dwarfism
and may be hereditary; tumours, infections, or infarction
(tissue death) of the pituitary can also induce dwarfism. In
many cases, other endocrine and sexual functions remain
normal
 Until skeletal maturity, cartilage persists at the ends of bone in the growth plate, which is
responsible for longitudinal bone growth. The cartilaginous template is eventually replaced
by bone. Many of the genes mutated in skeletal dysplasias encode proteins that play critical
roles in the growth plate. An understanding of the role in growth plate function gives
important clues into the molecular pathology of the skeletal dysplasia and makes it easy to
understand how a certain mutation causes a particular phenotype. Examples of genes that
play a role in growth plate chondrocytes and skeletal dysplasia include the following:
 Resting zone of the growth plate: SOX9 gene mutation causes camptomelic dysplasia,
which is characterized by short and curved bone and is associated with sex reversal in
which the female external genitalia does not match the male genotype. A heterozygous
mutation is sufficient to cause the disease making this a dominant mutation, despite earlier
reports suggesting that camptomelic dysplasia is a recessive disorder.
 Proliferation zone of the growth plate: FGFR3 gene mutation causes
achondroplasia, hypochondroplasia, and thanatophoric dysplasia, despite the
variability in severity.
 Hypertrophic zone of the growth plate: PTHR1 gene mutation causes
metaphyseal dysplasia. Activating mutations of the receptor causes the Jansen
form, whereas inactivating mutations causes the Blomstrand form.
 Zone of terminal differentiation of the growth plate: RUNX2 gene
mutation causes cleidocranial dysplasia.
 Mutations in type II collagen cause a large number of disorders classified as
spondyloepiphyseal dysplasia (ie, spondyloepiphyseal dysplasia congenita,
Kniest dysplasia, Stickler syndrome, and achondrogenesis). Mutations in the
smaller matrix components, such as type IX collagen and cartilage oligomeric
protein, cause multiple epiphyseal dysplasia.
Diagnostic Exams
 At birth, sometimes the appearance of a newborn may be enough to make a diagnosis of dwarfism.
As part of baby wellness exams, your child should be measured and weighed to see how they
compare to the population averages for a child their age.
 Consistently measuring in the lowest quartiles on the standard growth chart is another sign a
pediatrician can use to diagnose dwarfism.
 Amniocentesis: Making a tentative prenatal diagnosis while the baby is still in the womb can be done
with an ultrasound. If the baby’s appearance suggests dwarfism, or if the parents know they carry a
gene for dwarfism, a doctor may recommend amniocentesis. This is a lab test of amniotic fluid from
the womb.
 Genetic testing may be helpful in some cases. This is particularly true when distinguishing one
potential cause of dwarfism from another.
 A blood test to check for growth hormone levels may also help confirm a diagnosis of dwarfism
caused by hormone deficiency.
Medical and Surgical Interventions
 Dwarfism, regardless of the cause, can’t be cured or “corrected.” However, there are certain therapies that may help reduce the risk
of complications:
 Hormone Therapy: For people with growth hormone deficiency, injections of synthetic human growth hormone may be helpful.
Children receiving this treatment don’t always reach an average height, but they can get close. Treatment includes daily injections
that may continue into a person’s 20s.
Surgical Options
 correct the direction of bone growth
 stabilize the spine
 increase the channel in the vertebrae surrounding the spinal cord to relieve pressure on the spinal cord.
Another surgical procedure for people with excess fluid around the brain is to place a type of tube, called a shunt, in the brain. This
can relieve some of that fluid and reduce pressure on the brain.
 Physical therapy and orthotics-Physical therapy and orthotics are noninvasive solutions to some complications of dwarfism.
Physical therapy is often prescribed after limb or back surgery to help you regain or improve your range of motion and strength.
Physical therapy may also be advised if dwarfism is affecting the way you walk or is causing you pain that doesn’t require surgery.
Medications
 Most dwarfism treatments don’t increase stature but may correct

or relieve problems brought by complications.
 Humatrope Cartridge
 Omnitrope Cartridge
 Saizen vial
 Genotropin Syringe
 Somatropin solution

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Dwarfism

Dwarfism is a medical or genetic condition that causes someone to be

The term “short stature” is often preferred over “dwarfism” or “dwarf.”

 Pituitary dwarfism, caused by a deficiency of pituitary

 Most dwarfism treatments don’t increase stature but may correct

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