Achondroplasia

Achondroplasia is a hereditary condition that is a common cause for

dwarfism. people with achondroplasia have a short stature with an average
adult height of 4 feet,4 inches for males and 4 feet, 0.6 inches for females.
Most people with achondroplasia have a normal life span, but there is a
slightly increased risk of death during first year of life and the also might be
an increased risk of heart disease later in life

Symptoms
Achondroplasia is the most common type of dwarfism and is typically
diagnosed by noticeable features that can be seen at birth. Distinctive
features can also be diagnosed before birth by radiology and ultrasounds
such as an x-ray of the long bone can reveal achondroplasia in a newborn.
During pregnancy an ultrasound may show excessive amniotic fluid
surrounding the unborn infant. Achondroplasia dwarfism can be seen at birth
symptoms may include:

Abnormal hand appearance with space

between the
middle and ring finger
Decreased muscle tone
Disproportionately large head to body size
Prominent forehead
Shortened arms and legs
Limited range of motion at the elbows

Causes
Achondroplaisa is a result of an autosomal dominant mutation in the
fibroblast growth factor receptor gene 3 (FGFR3).About 80 percent of people
with achondroplasia have average sized parents, these cases result from a
new mutation in the FGFR3. FGFR3 normally has a negative regulatory effect
on bone growth, in the case of achondorplasia the mutated form of the
receptor is constitutively and it leads to severely shortened bones. The

FGFR3 gene provided instruction for making protein involved in the

development of bones, mutations on the FGFR3 gene are responsible for
most cases of achondroplasia.

Treatment
Theres no cure or specific treatment for achondroplasia. If any health
problems occur it will be dealt with a doctor. For example, antibiotics
are given for ear infections and surgery may be performed in severe
cases of spinal stenosis. Other health problems include periods of slow
breathing, obesity and in some cases during adulthood individuals with
the condition usually develop a weakness in their lower back and
bowed legs, which can cause difficulty with walking
Frequency
Of the estimated 200 types of dwarfism, achondroplasia is by far the
most common. Achondroplasia is one of the oldest known birth defects.
The frequency of achondroplasia is estimated to range from about 1 in
10,000 births in Latin America to about 12 in 77,000 in Denmark. An
average worldwide is estimated to be approximately 1 in 25,000
births.

Pituitary Dwarfism
Pituitary Dwarfism syndrome is a autosomonal dominant trait that cause
abnormally short height during childhood due to growth hormone deficiency.
Pituitary dwarfism can be tested through blood test to determine hormone
levels, X-rays of hand and growth charts are uses to compare a Childs height
and weight to a standard range

Symptoms
People who suffer from pituitary dwarfism are much smaller than other and
have a chubby built. Growth hormone deficiency is present at birth, but since
the main symptom of pituitary dwarfism is growth at a reduced rate, the
disease is not diagnosed until later in childhood, growth charts are used to
determine slow growth.

Slow growth
Below average height
Chubby child build
Absence of puberty or late puberty
Younger facial features
Experiencing headaches and problems
with their vision

Causes
Pituitary dwarfism is caused by problems in the pituitary gland, in children
not affected by pituitary dwarfism the child will release an average amount
of hormones. However in pituitary dwarfism the pituitary gland fails to
produce an adequate supply of growth hormone, which is essential for
normal childhood growth resulting in less protein synthesis and bone growth.
The child will be in proportion but shorter. Some causes of pituitary dwarfism
include brain tumours or diseases that affect the pituitary or hypothalamus,
head trauma, and an autoimmune condition called lymphocytic hypophysitis.

Treatments
Growth hormone replacement therapy. Daily doses ore given until the child
reaches appropriate height, more effective if administrated to younger
children before bone growth plates fuse. emotional support might also help
children suffering from dwarfism as it can lead to low self esteem and lack of
social participation

Frequency
Pituitary dwarfism occurs in all races and with equal frequency in males and
females and affects about one in every 40,000 children. Estimated 10,000 to
15,00 Americans are effect. Growth-hormone deficiency causes a shortstature condition in which a person's head, trunk, and limbs are in the same
proportion as an average person.

The hypothalamus secretes GH-RH (growth hormone releasing hormone).

This stimulates growth hormone secretion from the adenohypophysis(GH).

When growth hormone is released into the bloodstream it trigger secretion in

the liver of a hormone called insulin-like growth factor-1 (IGF-1). [Type a quote
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IGF-1 directly stimulates bone and muscle development, causing growth of

the long bones and increased protein synthesis in the muscles.