By Garcelle.HerkePeriod 3

Achondroplasia(Dwarfism)

How does a person inherit it?

It occurs as a sporadic mutation in about 85% of cases

May be inherited in an autosomal dominant genetic disorder.

What are the possible genotypes of the parents?

If both mom and dad have RR then they there

will be 100% the child will have dwarfism.

If both parents are Rr then there will be a 75%

the child will have dwarfism.

If the mom is Rr and the dad is rr then there at

least 50% of their children will have dwarfism.

How prevalent is the disease in the population?

The most common type of dwarfism would be achondraplasia.

Approxiamiatley 10,000 individual are said to have achondraplasia in the United

States.It affects about 1 in 40,000 childrenApproximiatley 150,00 people have

achondroplasia worldwide.80% of all “Little people” have

achondroplasia.

What are the chances of a person with this disease passing the disease to

their offspring?A person who has

dwarfism has a 50% chance of passing on

that gene to their offspring.

If two people who have dwarfism have a child, their child

has a 25% chance of dying shortly after birth, 50% they will get dwarfism, and a 25% they will have

an average phenotype.

How is the disease diagnosed?

It can be detected before birth by the use of prenatal ultrasound.

DNA test can be used to detect homozygosity, where in two copies of the

mutant gene are inherited a lethal conditional leading to stillbirths.

What are the physical symptoms of the disease?

The child would have a long and narrow torso with short

arms and legs.The head would be typically

larger than the body.With walking the, the hump goes away of the lower back

becomes obvious.The baby exhibits decrease in

muscle tone.A male would be about 52 inches and an adult female

would average about 49 inches.

What is the life expectancy of someone with the

disease?

It is approximately 10 years less then a person with an average height.

How can the disease be treated?

There is still no known treatment for achondroplasia.

Though there are human growth hormones, but they do not work for people

with achondroplasia.There is a controversial surgery of limb

lengthening will lengthen the arms and legs of someone with achondroplasia.

What are some new treatments or research that is going on for the disease?

There are no new treatments for achondroplasia besides trying to keep those who do have under control with weight and

middle ear infection management. In severe cases there is surgery available for strengthening and correcting deformed

bones.

Personal

Little people can do just about everything we can do, but they just have to alternate to their height.

They can do some exercises like average height people can like running they have to go slow with

that, but they still do sports.An organization that helps people with

achondroplasia is the Little people of America.(http://web.memberclicks.com/mc/page.do?sitePageId=37298&orgId=lpa

)Right now there is still no cure on achondroplasia, but there are a lot of organizations such as LPA that

help people with dwarfism cope with what they have.

Bibliography

http://en.wikipedia.org/wiki/Achondroplasia

http://biodwarfism.blogspot.com/2009/02/what-are-possible-genotypes.htmlhttp://emedicine.medscape.com/article/1258401-overview

http://en.wikipedia.org/wiki/Dwarfismhttp://www.buzzle.com/articles/achondroplasia-causes-symptoms-and-

treatments.html