Achondroplasia By Jake Armus.

Slides:



Advertisements
Similar presentations
Cutie dwarf! Dwarfism A genetic disorder that affects bone growth. Some characteristics include: - a long narrow torso - short limbs - unusually flexible.
Advertisements

Achondroplasia By Kait Keaveny. Achondroplasia Autosomal Dominant Disorder. Affects about 1 in 25,000 people. About 98% of those with achondroplasia have.
Human Genetic Disorders
November 29th 2013 By: Briana Fougere
Trisomy 18 or Edward's Syndrome By Austin Scharfstein.
FRAGILE X SYNDROME. WHAT IS FRAGILE X SYNDROME? The karyotype occurs in the X chromosome. People with fragile X syndrome have a “broken” X chromosome.
Human Genetic disorders
Genetic Disorders.
Interesting Genetic Disorders and Diseases, and Abnormalities.
Chance Vongchanh 7th hour
______ _______ ______ _______ Genetic Diseases. Basic Punnett Square In this scenario, both parents are heterozygous for a particular allele A = dominant.
Achondroplasia Dwarfism By Noy A. Period 5. What Is Achondroplasia? n A bone growth disorder that results in abnormality of cartilage formation n A mutation.
Genetic Disorders.
By Garcelle.Herke Period 3
Achondroplasia Aswad Habeeb Hameed Al-Obeidy FICMS GE & Hep.
Kody Prince Karishma Mendes. What is Dwarfism? Dwarfism is characterized by short stature. Technically, that means an adult height of 4 feet 10 inches.
Genetic Disorders, Part Deux
By Mitch & Russell. How Does a person inherit it? Is it dominant or recessive?  This disease can be passed down from parent to child. It is autosomal.
By Jayla Harris.   Turner syndrome is a disorder caused by the loss of genetic material from one of the sex chromosomes.  Turner syndrome (TS) is a.
Achondoplasia Achondroplasia is the most common type of dwarfism.
By: GP. Medical Answers Q: How does a person inherit Klinefelter’s Syndrome? Is it dominant recessive, sex-linked, too many/ too few chromosomes, or a.
Achondroplasia: Dwarfism Kelly LaBarre. Clinical Features Achondroplasia literally means “without cartilage formation.” Presents clinically as a long.
ME, MYSELF, AND I….. A DNA PRODUCTION. BROUGHT 2 U BY TEAM 5 PICTURES. EDITED BY TEAM LEADER.
Achondroplasia Kelly Boylan and Nicole Roberti. Definition  Achondroplasia is a disorder of growth. Although achondroplasia literally means "without.
Achondroplasia By: Cassidy high.
Group of inherited conditions with fragility of skin and mucous membranes (blisters and comes off easily) Abnormal protein connecting layers of skin.
Osteogenesis Imperfecta By Zachary G Brittle bone disease.
Dwarfism By: Hannah Nugent.
Presented by: Britt Shields and Connor Nash.  Achondroplasia is the common cause of dwarfism  Approximately 1 in every 25,000 have this disorder  The.
Achondroplasia By: Samantha Lenz and Courtney Miller.
Human Genetic Diseases
Achondroplasia (dwarfism). Medical Achondroplasia is a dominant, autosomal mutation. One would inherit this condition if the parents carried the gene.
Trisomy 18 or Edward's Syndrome
Charcot-Marie- Tooth Disease Jessica Tzeng. History  Named after Jean-Martin Charcot, Pierre Marie (Charcot’s pupil), and Howard Henry Tooth  Not a.
Achondroplasia Taylor Bagen Liam Trampota January 27, 2010 Period 9/10.
Charcot – Marie – Tooth disease
Dwarfism Klaudie and Poy. Contents What is Dwarfism? What are some types of Dwarfism? What causes Dwarfism? How does Dwarfism affect people who have it?
Alström Syndrome.
Hannah Beacom and Thomas Bennett Pd. 3.  Rare inherited disorder  Caused by genetic stutter  Progressive loss of nerve cells in brain  Results in.
Achondroplasia- Dwarfism By: Melissa Findlay. Who is most likely to get Achondroplasia? Achondroplasia is an autosomal dominant condition. This means.
TURNER SYNDROME ZACK DONOHUE. HOW DOES IT OCCUR? TURNER SYNDROM OCCURS WHEN A FEMALE DOESN’T HAVE THE USUAL PAIR OF X CHROMOSOMES.
Marfan’s Syndrome By Emily Espinosa. History Bernard Marfan, a french pediatrician, described the disease that still bears his name at a meeting of the.
POLYDACTYLY Kelly Lorenzi Per 3. How it is inherited  Inherited as an autosomal dominant trait  You can carry the allele for it and it will show in.
Achondroplasia Kelly Correia and Alyssa Antonucci January 28, 2010 Hour 3.
Tay-Sachs Drew Sivertsen. History Tay-Sachs is named after two physicians Warren Tay – was an ophthalmologist who was the first to discover a red dot.
By, Marissa Spallino and Kerianne Noonan.  “Dys”= Greek: meaning ill or bad.  “Plasia”= Latin: growth, cellular multiplication.  “Skelet”= Referring.
THALASSEMIA “SEA IN THE BLOOD” By: Marija Jukic. HIS TORY AND BACKGROUND  1925  Doctor Thomas Cooley  Genetic blood disorder  First discovered in.
Progeria Tom Rafanan & Sarah Mumbert Ms. Henriques: Honors Biology P5 3 April
Nanette Safonts Period 3
Human Genetic Diseases
Achondroplasia.
By Emily Aldridge NS215G Mendelian and Human Genetics
Achondroplastic Dwarfism
Marfan’s Syndrome By Emily Espinosa.
Corinne Lewin Genetics Project
Achondroplasia : Bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. Most common.
Epidermolysis Bullosa
HUMAN GENETICS What can go wrong? Chromosome Gene Mutations Mutations.
Achondroplasia Dwarfism
Achondroplasia Dwarfism
Cri du Chat Syndrome (Cat’s Cry Syndrome, Monosomy 5p)
Cri du Chat Ilana Horton.
Single gene disorders Autosomal disorders.
Human Genetics 1.
Inherited Human Disorders
Bellwork: 4/18 Put your phone up 
Human Genetic Disorders, Part 2
Presentation transcript:

Achondroplasia By Jake Armus

Brief History Term proposed by Jules Parrott in 1878 Parrot and Pierre Marie first modern scientists to clinically describe achondroplasia Literally means “without cartilage formation” Condition occurs in 1 in 15,000 to 40,000 newborns Majority of cases (75-80%) are result of new mutation It is a gene mutation

Phenotypic Effects Normal sized torso but short arms and legs Large Head Prominent forehead Hands are short with stubby fingers Decreased muscle tone Bowed Legs Individuals with achondroplasia usually reach adult height of 4 feet Individuals with achondroplasia have an increased risk for heart problems

How is it diagnosed? Generally diagnosed with X-ray and physical examination Genetic testing can be used to identify a mutation in the FGFR3 Gene Scientists do not know why this mutation occurs Caused by a G to A point mutation at nucleotide 1138 of the FGFR3 gene, which causes a glycine to arganine substitution.

Can It be passed down? May be inherited as an autosomal dominant trait Most common hereditary form of dwarfism If one parent has achondroplasia, child has 50% chance of inheriting the disorder If both parents have it then the chance is 75%

TREATMENTS There is No Cure Human Growth Hormone can be administered to increase bone growth rate among those with achondroplasia Surgery sometimes needed to correct skeletal deformities (rare cases)

Bibliography Bones.emedtv.com. N.p., n.d. Web. 18 Nov. 2012. <http://bones.emedtv.com/achondroplasia/what-causes- achondroplasia.html>. Genome.gov. N.p., n.d. Web. 17 Nov. 2012. <http://www.genome.gov/19517823>. Ghr.nlm.nih.gov. N.p., n.d. Web. 14 Nov. 2012. <http://ghr.nlm.nih.gov/condition/achondroplasia>. Health.nytimes.com. N.p., n.d. Web. 15 Nov. 2012. <http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html>. Marchofdimes.com. N.p., n.d. Web. 16 Nov. 2012. <http://www.marchofdimes.com/baby/birthdefects_achondroplasia.html>. Medlink.com. N.p., n.d. Web. 18 Nov. 2012. <https://www.medlink.com/medlinkcontent.asp>. Science.marshall.edu. N.p., n.d. Web. 16 Nov. 2012. <http://science.marshall.edu/murraye/341/Slide%20shows%202008/Human%20Genetics%20Achondropl asia%202008%20[Compatibility%20Mode].pdf>. Thirdage.com. N.p., n.d. Web. 18 Nov. 2012. <http://www.thirdage.com/hc/c/achondroplasia-treatment>.