Achondroplasia

Biology Research Project

Why I chose to research Achcondroplasia

Many people suffer from Achondroplasia everyday. Nobody can control if a baby is born with Achondroplasia or not. It is more likely that you can get Achondroplasia if one of your parents has it. However, if both of your parents have it, then you have a 25% chance of being normal. Many families deal with Achondroplasia everyday. By doing my research project on Achondroplasia will help me to understand what these people go through in their daily lives.

What exactly is Achondroplasia?

Achondroplasia is the most common form of dwarfism. The cartilage in the spinal area doesn't convert to bone all the way. Everybody that has Achondroplasia has a short stature. The average height of an adult male is about 4 feet and 4 inches. The average height of an adult female is about 4 feet 1 inch. Achondroplasia affects bone formation especially in the spinal area. http://ghr.nlm.nih.gov/condition/achondroplasia
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Symptoms

Some of the symptoms caused from Achondroplasia include: breathing slow or short of breath, obesity, ear infections, decreased muscle tones, disproportionately large head-to-body size difference, prominent forehead, shortened arms and legs, spinal stenosis, spine curvatures called Kyphosis and Lordosis. http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

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Causes of Achondroplasia

It typically occurs in the early stages of fetal development. A lot of the skeleton's bone structures is made of cartilage. Most of the cartilage converts to bone during the early stages of life. In dwarfism, most of the cartilage doesn't convert to bone which results in the interference of making bones and results in the small size of people with Achondroplasia. This is caused by mutations in the FGFR3 gene. The FGFR3 gene instructs the body to make protein to help build bones and to help them grow. More than 80% is not inherited from your family, but 20% of dwarfism is inherited. If one parent has Achondroplasia than the child has a 50% of inheriting dwarfism. http://www.healthline.com/health/achondroplasia#Overview1
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How is Achondroplasia Inherited?

Most of the Achondroplasia cases are not inherited. If Achondroplasia is inherited, then it is in a sex-linked dominant manner. http://www.genome.gov/19517823
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Treatment

There is no treatment for Achondroplasia. There are surgeries to help open constricted bone passages in the spine and other parts of the body. Also, there is a Leg-Lengthening surgery to help patients increase their height. With these procedures, however the outcome can be painful and risks with complications are high. http://www.dnalc.org/view/15930-What-is-Achondroplasia-.html
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Diagnosis

To be diagnosed with Achondroplasia they do several tests on you such as: Radiographic skeletal survey, Dysmorphology examination, and a family history assessment. Genetic counseling is an option for the diagnostics of Achondroplasia. http://www.seattlechildrens.org/clinics-programs/orthopedics/research-and-advances/molecular-genetic-assessment-of-achondroplasia/
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Population Effects

Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. http://ghr.nlm.nih.gov/condition/achondroplasia
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What I discovered...

Even though there is no cure in Achondroplasia there are surgeries to help with the spine and other bones of the body. Also most of this disease is not inherited. The way to develop this is due to the cartilage not converting to bone in the spinal area. Achondroplasia is the most common form of dwarfism. Even though they have this disease most people have a higher intelligence level.
Emily's Story: Little Person, Big Life (Dwarfism)
Achondroplasia Genetics Project