Achondroplasia DwarfismAchondroplasia Dwarfism

By Noy A.By Noy A.Period 5Period 5

What Is Achondroplasia?What Is Achondroplasia?

A bone growth disorder that results in A bone growth disorder that results in abnormality of cartilage formationabnormality of cartilage formation

A mutation that occurs in about 1 out of A mutation that occurs in about 1 out of 25,000 babies25,000 babies

The mutation happens while a fetus is The mutation happens while a fetus is developing in its mother’s wombdeveloping in its mother’s womb

People with it are much shorter: average People with it are much shorter: average adult height is 4 to 3 ½ feet talladult height is 4 to 3 ½ feet tall

It is inherited from the parentsIt is inherited from the parents People who have this disorder have the same People who have this disorder have the same

intelligence as people who don’tintelligence as people who don’tA person with A person with

AchondroplasiaAchondroplasia

What Are The Symptoms?What Are The Symptoms?

Prominent foreheadProminent forehead Bowed legsBowed legs Short statureShort stature Curved spineCurved spine Shortened arms and legsShortened arms and legs Large head-to-body size difference Large head-to-body size difference Decreased muscle toneDecreased muscle tone Unusual hand appearance with space between the Unusual hand appearance with space between the

long and ring fingerslong and ring fingers

An x-ray hand of a person An x-ray hand of a person who has achondroplasiawho has achondroplasia

What Are The Chances Of Someone What Are The Chances Of Someone Getting Achondroplasia?Getting Achondroplasia?

If both parents If both parents have have achondroplasia, achondroplasia, and both have a and both have a recessive and a recessive and a dominant allele, dominant allele, then there is a then there is a 75% chance that 75% chance that their child will their child will have it, too.have it, too.

If both parents If both parents have have achondroplasia, achondroplasia, and one has and one has both dominant both dominant alleles, then alleles, then there is a 100% there is a 100% chance that their chance that their child has it, too.child has it, too.

AA aa

AA AAAA AaAa

aa AaAa aaaa

AA AA

AA AAAA AAAA

aa AaAa AaAa

aa aa

aa aaaa AaAa

aa aaaa aaaa

If none of the If none of the parents has parents has achondroplasia, achondroplasia, there still is a there still is a chance that their kid chance that their kid will have it; if there will have it; if there is a mutation. If is a mutation. If there is no mutation, there is no mutation, then the child will then the child will not have it.not have it.

* Note: if someone has both dominant alleles, they are most likely going to die before or shortly after birth.* Note: if someone has both dominant alleles, they are most likely going to die before or shortly after birth.

Why Is Achondroplasia So Bad?Why Is Achondroplasia So Bad?

There is no cure for achondroplasiaThere is no cure for achondroplasia Growth hormones and/ or surgery can help Growth hormones and/ or surgery can help

lengthen limbs, but therapy can cost from lengthen limbs, but therapy can cost from 10,000 to 25,000 dollars a year10,000 to 25,000 dollars a year

There is fluid build up in the brainThere is fluid build up in the brain Clubbed feet can make walking hardClubbed feet can make walking hard Ear infections can lead to hearing lossEar infections can lead to hearing loss Respiratory infections make it difficult to Respiratory infections make it difficult to

breathbreath

ConclusionConclusion

Achondroplasia is a rare disease that Achondroplasia is a rare disease that includes bad infections and unusual includes bad infections and unusual shortness. It is genetic and begins in the shortness. It is genetic and begins in the mother’s womb. You can never be sure if a mother’s womb. You can never be sure if a child will have achondroplasia or not. To child will have achondroplasia or not. To lengthen limbs, hormones or surgery can lengthen limbs, hormones or surgery can help, but can be expensive. Achondroplasia help, but can be expensive. Achondroplasia is hard to live with because of breathing and is hard to live with because of breathing and walking difficulties.walking difficulties.

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