By: Alaina Zsampar MARFAN SYNDROME.  Disorder that affects the body’s connective tissues  1896  By French Doctor Antoine Marfan  Observed a five year.

Slides:

Advertisements

Similar presentations

Medical Mystery Patient X. Symptoms 0 Patient’s Symptoms: 0 Possible Diseases/Disorders: 0 Final Diagnosis:

Advertisements

By: Tyler Abel. Cardiovascular System  Enlarged Aorta (blood flow away from the heart)  Aorta tearing (separation of layers)  “Floppy” mitral valve.

Human Genetic Disorders

Marfan Syndrome By: ……... Cause  Caused by a mutation in the FBN1 gene that determines the structure of fibrillin  Fibrillin is a protein that is an.

Histology Unit 2 Seminar Plan for tonight Unit 3: Histology Project Topic Selection Unit 2 Self-Assessment: Selected Questions (8) Marfan Syndrome Osteogenesis.

Human Genetic disorders

Von Recklinghausen Neurofibromatosis NF1 By: Jessica Mollman.

Interesting Genetic Disorders and Diseases, and Abnormalities.

1 Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Human Biology Sylvia S. Mader Michael Windelspecht Chapter.

Student name. Marfan syndrome is a genetic disorder that affects the development of connective tissues in the body. Marfan Syndrome.

Osteogenesis imperfecta

Marfan Syndrome Lydia Auch Block 2.

Syndrome Marfan Mac Simonson and Thomas Evans

Marfan Syndrome Also known as Arachnodactyly, MFS, & Marfan Syndrome Type 1 and Type 2 By: Kianna Thompson.

Kody Prince Karishma Mendes. What is Dwarfism? Dwarfism is characterized by short stature. Technically, that means an adult height of 4 feet 10 inches.

Case Presentation- Marfan Syndrome

Circulatory Disorders. Coronary Artery Disease Plaque buildup in coronary arteries. Prevents the heart from receiving oxygen-rich blood. Causes/Risk Factors:

 Definition Definition  Symptoms: Symptoms: › The Skeleton The Skeleton › The Eye The Eye › The Skin The Skin  Treatment Treatment  Genes Genes 

Genetic disorders C.1.m. – Describe the mode of inheritance of commonly inherited disorders.

Genetic Disorders, Part Deux

Marfan Syndrome By Mike B.

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.

Marfan’s syndrome and related aortopathies Shehla Mohammed.

Marfan Syndrome Jenna Blythe.

Achondoplasia Achondroplasia is the most common type of dwarfism.

Single-gene Autosomal Disorders. Basic terminology Genotype: A A (Homozygous)A A Genotype: A B (Heterozygous)A B Single gene disorder - determined by.

Group of inherited conditions with fragility of skin and mucous membranes (blisters and comes off easily) Abnormal protein connecting layers of skin.

By: Jack Wernet.  “A gene on one of the non-sex chromosomes that is always expressed, even if only one copy is present.” (Human Genome Project Information.

By Abhi Gollapudi and Matt Pruss

Marfan Syndrome A disorder that affects your connective tissue.  Tall, Thin Build  Long arms, legs, fingers, and toes  Flexible joints  Scoliosis 

Osteogenesis Imperfecta

Dwarfism By: Hannah Nugent.

Turner Syndrome Erica Simi 3/26/10.

An Autosomal Dominant Disorder of the Connective Tissues.

Marfan Syndrome By: Oliver Bell. A mutation or a defect in the gene that makes Fibrillin- 1 (FBN1). Important part of connective tissue. Hereditary (Passed.

By: Emma Kirby and Peter Sorenson Period 6.  Marfan syndrome was discovered when a French doctor had a patient with elongated fingers, toes, and limbs.

ASARE SMART TOPIC; MARFAN SYNDROME.. INTRODUCTION. Marfan syndrome is a disorder of the connective tissues of the body, manifested principally by changes.

Marfan's Syndrome By: Jake Whetstone.

Chromosome 8. RECQL4 gene Length of DNA sequence- 6,544 Name of Protein Encoded by Gene- helicase, lymphoid-specific Length of Amino Acid Sequence

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.

Aperts Syndrome (Acrocephalosyndactyly) By: Madison Weckerly.

Huntington’s Disease Facts & Information By Matthew Cannon.

ALS or Lou Gehrig’s disease By: Nathaniel Baughman.

Duchenne Muscular Dystrophy By: Callia Ricozzi. What is Muscular Dystrophy?  The deterioration of the muscles  Dystrophin not made  gene mutation 

BY: TERESA KRASZEWSKI CYSTIC FIBROSIS. BACKGROUND AND HISTORY Late 16th century babies who had “salty skin” when kissed were likely to die 1938 Dr. Dorothy.

By: Anthony G., Breanna C., and Stefania P. MARFAN’S SYNDROME.

Barth Syndrome (BTHS) By: Glorimar Vega.

BY: MARIA BEECHER Wilson’s Disease. Intro Samuel Alexander Kinnier Wilson 1 in 30,000 people Rare genetic disease  Build up of copper Affected organs.

Genetic Disorders  Common, with 2-4% of live-born babies having a significant congenital malformation and about 5% a genetic disorder.  30-50% of hospitalized.

Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)

Retinoblastoma Retinoblastoma is a rare form of eye cancer that develops in the retina usually before the age 5.

Progeria Tom Rafanan & Sarah Mumbert Ms. Henriques: Honors Biology P5 3 April

Human Genetic Disorders

Marfan Syndrome Hannah Larks.

Marfan Syndrome By Jared Bowen-Kauth.

Human Genetic Disorders

Marfan Syndrome Melanie Dragomire Dr. Williams NS215

Achondroplastic Dwarfism

Marfan Syndrome Michele Scott Period 3.

Marfan’s Syndrome By Emily Espinosa.

What are reduced penetrance and variable expressivity

Presentation by Katie Gleason

What does this protein make up or do?

Bell Ringer Amino Acids

Inherited Human Disorders

Human Genetic Disorders, Part 2

Presentation transcript:

By: Alaina Zsampar MARFAN SYNDROME

 Disorder that affects the body’s connective tissues  1896  By French Doctor Antoine Marfan  Observed a five year old girl  1991  Cause  The severity of symptoms depends on the type of mutation  Seen in famous figures  About 1 in 5 to 10,000 WHAT IS THIS DISEASE?

 Mutation in Chromosome 15 on FBN1 gene  Point mutation  Changes amino acid in Fibrilin-1 protein  Causes abnormalities and impairs it’s function  The FBN1 gene  produces protein fibrilin-1 CAUSE

 Autosomal Dominant  25%  new mutations  Other 75%  inherited at birth  Commonly inherited connective tissue disorders INHERITANCE

 Long arms, legs and fingers  Tall and thin body type  Curved spine  Chest sinks in or sticks out  Flexible joints  Flat feet  Crowded teeth  Stretch marks on the skin  dural ectasia SYMPTOMS

 Sudden collapsed lung  Aortic enlargement  Severe near-sightedness  Dislocated lens or retina  Detached retina  Early glaucoma and cataracts NON-VISIBLE SYMPTOMS

 A complete physical exam  Echocardiogram  Electrocardiogram (EKG)  An eye examination  CT or MRI  Genetic testing DIAGNOSIS

 No specific treatment  Routine doctors appointments  Surgery  Medication  Low blood pressure drugs TREATMENT

 Affects the body’s connective tissues  Mutation on gene FBRN-1 on chromosome 15  Inherited/ New Mutation  Causes elongated limbs or severer symptoms  No set treatment SUMMARY

 Aortic Enlargement. N.d. Photograph. Study Blue, n.p.  Cataracts. N.d. Photograph. NY times, New York City.  Electrocardiogram. N.d. Photograph. Encyclopedia Britannica, n.p.  "The Facts." Marfan Association Victoria. N.p., n.d. Web. 10 Dec  "FBN1." - Fibrillin 1. Genetics Home Reference, Mar Web. 10 Dec  "Genetic Testing for Hereditary Diseases - Summary." Genetic Testing for Hereditary Diseases - Summary. N.p., n.d. Web. 10 Dec  "KidsMD Health Topics." Marfan SyndromeÂ |Â Boston Children's Hospital. Boston Children's Hospital, n.d. Web. 10 Dec  Low Blood Pressure Drugs. N.d. Photograph. The Health Success Website, n.p.  "The Marfan Foundation." Know the Signs. Fight for Victory. Marfan Foundation, n.d. Web. 10 Dec  "Marfan Syndrome | Disease | Overview | Office of Rare Diseases Research (ORDR- NCATS)." Marfan Syndrome | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS). N.p., 25 Feb Web. 10 Dec  "Marfan Syndrome." Marfan Syndrome. David Darling, n.d. Web. 10 Dec WORK’S CITED