Achondroplasia.

Slides:

Advertisements

Similar presentations

Honors Biology Genetic Disorders.

Advertisements

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

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

Mutation and Disease. Why Study Our DNA? Learn the effects of mutations Understand how genetic diseases are generated Propose possible treatments for.

Human Genetic disorders

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.

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.

Hemophilia A By Saad Mukaty. Definition of Hemophilia  Hemophilia (A) is a rare disorder in which blood doesn’t clot normally because it lacks important.

HUMAN GENETICS. Objectives 2. Discuss the relationships among chromosomes, genes, and DNA. 2.8 Examine incomplete dominance, alleles, sex determination,

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.

Human Genetics.

Achondoplasia Achondroplasia is the most common type of dwarfism.

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

Understanding Genetic Testing

Achondroplasia (dwarfism). Medical Achondroplasia is a dominant, autosomal mutation. One would inherit this condition if the parents carried the gene.

Achondroplasia Taylor Bagen Liam Trampota January 27, 2010 Period 9/10.

Charcot – Marie – Tooth disease

Achondroplasia By Jake Armus.

Zookeeper genetic disorder By nick proffitt. Multiple sclerosis Multiple sclerosis also known as MS is a long lasting disease that can affect the brain.

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.

Scoliosis Scoliosis is an abnormal curvature of the spine, it’s a disorder in which there is a sideways curve of the spine, or backbone. Cristian Carlson.

Achondroplasia Kelly Correia and Alyssa Antonucci January 28, 2010 Hour 3.

Dwarfism By:Cristobal Delgadillo & Victor Martinez.

By, Marissa Spallino and Kerianne Noonan.  “Dys”= Greek: meaning ill or bad.  “Plasia”= Latin: growth, cellular multiplication.  “Skelet”= Referring.

Genetic Disorders and Genetic Testing

Chapter 11 Complex Inheritance and Human Heredity.

Some Genetic Disorders

Marfan Syndrome By Jared Bowen-Kauth.

The Human Genome Chapter 14.

Genetic Disorders.

Genetic disorders and pedigrees

Tracing the Inheritance of the Human Y Chromosome

Savannah barnes Combs 1st period 11/29/30

Achondroplastic Dwarfism

Corinne Lewin Genetics Project

Huntington’s Chorea By Alyce & Ryan.

Achondroplasia : Bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. Most common.

Down Syndrome By Todd Martorano.

The Human Genome Chapter 14.

Genetic Testing Result Means. Before Genetic Testing  The result of genetic testing can be life changing.  It is important for patients and their families.

Dwarfism “Achondroplasia”

Mrs. Jacobs Unit 6: Genetic Abnormalities IN 149

Genetics of Parenthood Quiz

Chapter 12 Table of Contents Section 1 Chromosomes and Inheritance

Epidermolysis Bullosa

Pedigrees, Karyotypes and Genetic Disorders

Name of the disorder.

Achondroplasia Dwarfism

Achondroplasia Dwarfism

Things Can Go Wrong With DNA and Chromosomes

By Abanoub Narouz and Omar Omar

Human Genetics 1.

Alexander Syndrome (a.k.a. AxD)

The Endocrine System: Dwarfism

Chapter 12 Table of Contents Section 1 Chromosomes and Inheritance

Presentation transcript:

achondroplasia

achondroplasia Achondroplasia is a genetic disorder. It is the most common form of short-limbed dwarfism. People with achondroplasia typically have short arms and legs, and enlarged head, and an average-sized torso.

Causes Achondroplasia is an autosomal dominant gene. It is NOT a sex linked gene. It is a nondisjunction There is a small chance that it could be inherited. A healthy gene is different because it does not have a mutation in the FGFR3 gene. Chromosome 4 is affected by achondroplasia.

facts Fewer than 20,000 US cases per year It is equally as common in men and women. It is not more common in any one ethnicity It does not affect a particular age bracket

Symptoms/affect on body Short arms and legs in proportion to their bodies Enlarged head Back pain Short stature Bow legs Excessive inward curvature of the lower back Hunched back Snoring

Testing and screening “Targeted mutation analysis for the two common mutations in FGFR3” Sequencing for rare mutations “Testing can be performed on chorionic villus or amniocytes.”

treatment Growth hormone by injection Monitoring for changes or improvements The disease is not life-ending

interesting facts Achondroplasia, which means ‘without cartilage formation’, is a Greek word. There is no cure for achondroplasia. In some people with achondroplasia it may be necessary to drain fluid from the head to: relieve pressure on the brain test for hydrocephalus, a condition where spinal fluid builds up inside the skull.

visuals

bibliography "Learning About Achondroplasia." Learning About Achondroplasia. N.p., 11 May 2012. Web. 25 Nov. 2015. "Dwarfism." Mayoclinic. N.p., n.d. Web. 25 Nov. 2015. Kivi, Rose. "Achondroplasia." Healthline. N.p., n.d. Web. 25 Nov. 2015. "Achondroplasia - Google Search." Achondroplasia - Google Search. N.p., n.d. Web. 25 Nov. 2015. <https://www.google.com/search?q=Achondroplasia&gws_rd=ssl>. "GeneFacts." Risk Assessment, Testing, Screening and Referral. N.p., n.d. Web. 29 Nov. 2015. "Interesting Facts." Interesting Facts. N.p., n.d. Web. 29 Nov. 2015. <http://megeve0.tripod.com/id1.html> "What Is Achondroplasia?" What Is Achondroplasia? N.p., n.d. Web. 29 Nov. 2015.