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

Slides:

Advertisements

Similar presentations

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

Advertisements

SICKLE CELL DISEASE Sickle cell anemia.

Sickle Cell Anemia Blood disorder, inherited disease where a person inherits a mutant gene form each parent for the manufacture of hemoglobin. Red blood.

Human Genetic Disorders

Human Genetic disorders

Von Recklinghausen Neurofibromatosis NF1 By: Jessica Mollman.

Skeletal System.

MUTATIONS AND GENETIC DISEASES PART 4. V. GENETIC CONDITIONS 1.Genetic Abnormality – rare condition with little or no ill effects - Ex. Six fingers, albino,

Genetic/Chromosomal Disorder Presentation By: Brian Smith.

Sally Freese Family and Consumer Science

Chance Vongchanh 7th hour

kyphosis lordosis and scoliosis

WARM UP 1/30 1. What do you call the cavities that hold osteocytes? 2. What are lamellae? 3. What is the long main portion of long bone called? 4. What.

Osteogenesis imperfecta

By Stephen Monahan.  Genes on chromosome 3 include ABHD5,ALAS1, AMT,ATP2B2, and BCHE  Chromosome 3 contains between 1,100 to 1,500 genes where ABHD5,ALAS1,

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.

You already know… - A chromosome is a structure that carries genetic information Each cell normally has 23 pairs of chromosomes: 1 pair of sex chromosomes.

Marfan Syndrome Lydia Auch Block 2.

Case Study Student Name: Brittany Dalton Date: 11/9/2010.

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

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.

Science Sponge What are the names of some of the diseases of the bone? What are the names of the three types of joints? What movement do they generally.

VON RECKLINGHAUSEN DISEASE Neurofibromatosis (nf) Tiffany Calderon.

Development of Skeletal System & Limbs Dr. Sama ul Haque Dr. Rania Gabr.

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.

What is sickle cell disease? Sickle cell disease is a disorder that affects.

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.

Dwarfism By: Hannah Nugent.

Part I Amy L. McIntosh, MD Pediatric Orthopedic Surgeon Mayo Clinic Rochester, Minnesota.

Skeletal System Overview. Bones are alive  These are dead bones  These are living bones.

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.

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

By Ali Danhoff.  Dr. Henry Turner, an endocrinologist, discovered this syndrome in 1938 when observing female patients.  Occurs when a female is missing.

Skeletal System.

Achondroplasia By Jake Armus.

Alström Syndrome.

Achondroplasia- Dwarfism By: Melissa Findlay. Who is most likely to get Achondroplasia? Achondroplasia is an autosomal dominant condition. This means.

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.

Aseel Samaro Exploring problems with skeletal system.

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.

1 st Block Skeletal Conditions and Diseases Spring 2015.

Daily Quiz ► What system was our last test on? ► What system are we starting today? ► Name a function of the skeletal system?

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

Barth Syndrome (BTHS) By: Glorimar Vega.

Marfan Syndrome By Jared Bowen-Kauth.

TEI OF PATRAS DEPT. OF PHYSICAL THERAPY

(Left) Characteristic appearance of a newborn with achondrogenesis type 1B, born at week 34 and deceased 25 minutes after birth. Note the flat face, the.

Multiple Epiphyseal Dysplasia

Achondroplasia.

Achondroplastic Dwarfism

Marfan’s Syndrome By Emily Espinosa.

3.1 The Disease By: Jalin Christian.

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

Dwarfism “Achondroplasia”

Epidermolysis Bullosa

Skeletal System Notes Functions and Organs.

Single gene disorders Autosomal disorders.

Anthony Ravasio Health 9 April 09, 2017

The Endocrine System: Dwarfism

Skeletal system Melissa Gomez , Mac Aquino Mr. Galvan

Presentation transcript:

By, Marissa Spallino and Kerianne Noonan

 “Dys”= Greek: meaning ill or bad.  “Plasia”= Latin: growth, cellular multiplication.  “Skelet”= Referring to the spine.  “al”= Latin: of the kind, or pertaining to.

 Dwarfism is a genetic condition affecting bone and cartilage growth.  Hundreds of conditions under the topic of Skeletal Dysplasia, the most common being Achondroplasia.  Skeletal Dysplasia is an abnormal difference in the size and shape of the legs, arms, trunk, or skull.  1 in every 26,000-40,000 births.

 Inherited condition caused by many different genetic mutations in the FGFR3 gene.  The gene instructs the body to make a protein necessary for bone growth and maintenance.  Most of the cartilage doesn’t convert to bone.

 Shortening in bones of the legs and arms  Bowed or fractured bones  Abnormal ribs  Asymmetric bone growth  Irregular thickened or thin bones  Large head  Stubby fingers  Scoliosis  Visually different in society

 No cure.  Every case in evaluated differently.  Surgical procedures to correct abnormal bone growth if possible.  Some children are given growth hormones.  PT to help with muscle soreness and tightness in arms, legs, and spine.

 Not life threatening.  ¼ of fetuses with a Skeletal Dysplasia will be still born.  30% will die in the first six weeks after birth.  Complications with lung and heart diseases can shorten life span.  However, many end up living full and normal lives.

 ESDN= European Skeletal Dysplasia Network  To understand the molecular genetics and cell- matrix pathophysiology of skeletal dysplasia.  The method of this project consists of three components.  1) Patient ascertainment and comprehensive clinical and radiographic diagnosis.  2) Molecular genetics and genetic heterogeneity.  3) Molecular cell pathology and structure/function relationships.

 "Skeletal Dysplasias." The Children's Hospital of Philadelphia. N.p., May Web. 13 May  Dwarfism." Causes. Mayo Clinic, 27 Aug Web. 13 May  Cafasso, Jacquelyn. "Skeletal Dysplasia." Medical Information & Trusted Health Advice: Healthline. Healthline, 7 June Web. 13 May  "European Skeletal Dysplasia Network." European Skeletal Dysplasia Network. N.p., n.d. Web. 13 May 2014.