Achondroplasia (Dwarfism)

Anton Camanguian

Achondroplasia (Dwarfism)

Achondroplasia or also known as Dwarfism is most seen symptom of Dwarfism. Dwarfism is a sickness where the person with it has short limbs.
achondroplasia

Symptoms

- Short arms and legs

- Enlarged Head

- Average sized trunk

- Lower back curved

- Short Fingers

- Hunched Back

- Misaligned Teeth

Causes

This disease is mostly mutations but it is also sometimes caused by genetics. The mutation that occurs is in the gene that tells your body to make proteins for bone growth and maintenance, the FGFR3. It is also sometimes passed on through the family.

Inheritance

This disease is a autosomal dominant disease. Which means if you have one dominant trait in you genotype then you will have that disease, but eighty percent of the people with this disease has parents that are normal. It is just because of their mutated FGFR3 gene.
Ginny Foos: Achondroplasia/Dwarfism - Tales from the Genome

Treatment

This treatment isn't curable, but treatment does help. There are injection hormones you can take to ease the symptoms and in rare cases surgeons can fix the curvature in you'r back. Other than that this disease cannot be treated.

Diagnosis

This disease can be detected buy late prenatal ultrasound images and clinical findings at birth. There is genetic counseling for this disease.

Statistics

This disease is seen in 1 of every 40,000 births. There is no gender that has it more than the other so, it's shared equally. There isn't even any racial preferences in this disease.

Other

- 80% of the dwarfs have achondroplasia

- 80% of the people with achondroplasia have normal sized parents.

- It is an autosomal dominant disease

- If one parent has achondroplasia then there is a 50% chance their offspring will have it, if they are both diagnosed with achondroplasia then the percentage increases to 75%

- Children with this disease are slow to learn how to move their head and sit and walk independently.

Resources

-https://asiawaitingchild.wordpress.com/category/family-story/

-http://www.humpath.com/spip.php?article10184

-http://study.com/academy/lesson/achondroplasia-dwarfism-definition-symptoms-treatment.html

-https://www.youtube.com/watch?v=B2lIWC_Fsco

-https://www.youtube.com/watch?v=3H9p0qvyC8I

-https://ghr.nlm.nih.gov/condition/achondroplasia

-http://www.medicinenet.com/achondroplasia/article.htm

-http://www.myvmc.com/diseases/achondroplasia/

-https://rarediseases.info.nih.gov/gard/8173/achondroplasia/resources/16

-https://www.genome.gov/19517823/learning-about-achondroplasia/