Genetic Disorder Brochure
Project
Overview
Create a tri-fold brochure for a doctor’s office waiting room. The brochure should
provide patients with information about one of the genetic disorders listed below.
Assume that most of the patients of your audience are adults with a typical high school
science background.
The brochure should be creative as well as informative. You want people to pick it up and
read through it. Be sure to include accurate, up-to-date information and graphics that
illustrate important ideas. You should reference at least four sources of information
on a separate “works cited” page to hand in along with your brochure. (Google
DOES NOT count)
Procedure
You will research the genetic disorder of your choice and use the following questions as
a guide, to the type of information you will need for your brochure.
Mutation, nondisjunction)
disorder? (X, Y, #21)
-linked, recessive, and/or dominant?)
medical assistance will the affected child need? Will further
assistance be needed, as the child grows older? What is the long-term outlook for
the child?
have children in the future? Will those children be affected?
soon?
Brochure
After researching the disorder, make an informational pamphlet that could be given to
patients. The pamphlet must be no larger than 8.5 x 11 unfolded. This brochure should
be of professional quality. It must fully inform the reader of all issues pertaining to
the genetic disorder. Again, use the questions provided to guide your research. Your
brochure will be graded based on accuracy, completeness, and creativity. Visual
representations (pictures, graphs, etc.) should be incorporated into the brochure.
Give credit for graphics you did not make.
Works Cited Page
You will need to prepare, on a separate sheet, a works cited page that identifies all
sources used to make the brochure. At least four sources are required for this
project. More than four is acceptable, and encouraged! (Be sure to use proper
format; do not just list websites, list author, title, date, etc.)
Here is an example of how you record your reference:
Huntington’s disease Society of America website, Living with Huntington’s, article
by Pat Pillis.
Possible Internet Resources (use google.com to find other
sites)
Online Mendelian Inheritance in Man
Center for Disease Control Genetic Information
International Birth Defects Information Systems
National Center for Biotechnology Information
Genetic Alliance
Howard Hughes Medical Institute
National Institute of Health Office of Rare Diseases
Genetics Education Center
LIST OF GENETIC
DISORDERS
Here are some suggested genetic disorders; others may be approved:
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Achondroplasia - most common genetic cause of dwarfism
Achromatopsia - visual acuity loss, colorblindness, light sensitivity, and nystagmus
Albinism - little or no production of melanin in hair, skin, and iris of the eyes
Alzheimer’s Disease - most common form of dementia
Angelman Syndrome - intellectual and developmental delays, severe speech impairment and problems
in movement and balance, recurrent seizures and small heads
Bardet-Biedl Syndrome - obesity, polydactyly, deterioration of rod and cone cells, mental retardation
and defect in the gonads, and kidney disease
Barth Syndrome - mutations or alterations in the BTHS gene, heart defects, poor skeletal musculature,
short stature, mitochondrial abnormalities, and deficiency of white blood cells
Bloom Syndrome - high frequency of breaks and rearrangements in the chromosomes
Canavan Disease - steady damage to nerve cells in the brain
Charcot-Marie-Tooth disease - touch sensation and loss of muscle tissue
Color Blindness - inability of differentiating among certain colors
Cri-du-Chat Syndrome - spontaneous deletion of a segment of chromosome 5 during formation of egg or
sperm or during early stages of fetal development
Cystic Fibrosis - autosomal recessive disorder secreting mucus and sweat
Down Syndrome - abnormal cell division of chromosome 21
Duchenne Muscular Dystrophy - rapidly gradual muscle weakness and damaged muscular tissue in the
pelvis and legs
Fragile X Syndrome - inherited form of mental retardation
Hailey-Hailey Disease - blistering rashes on body folds
Hemophilia - body’s inability to control bleeding (interior or exterior, or both)
Huntington’s Disease - production of a faulty protein instead of the normal “huntingtin” protein
Jackson-Weiss Syndrome - foot abnormalities and premature fusion of bones in the skull
Klinefelter Syndrome - abnormal testicular evolution and decreased fertility
Krabbe Disease - mutation in the GALC gene
Langer-Giedion Syndrome - deletion or mutation of at least two genes on chromosome 8
Lowe Syndrome - physical and mental retardation
Marfan Syndrome - genetic disorder of the connective tissue
Muscular Dystrophy - progressive weakening and breaking down of muscle fibers
Myotonic Dystrophy - wasting of the muscles, cataracts, heart conduction defects, endocrine changes,
and myotonia
Nail-Patella Syndrome - lack of nail and knee caps
Neurofibromatosis - development of tumors along the different nerves and evolution of non-nervous
tissues, like skin and bones
Noonan Syndrome - heart malformations, short stature, characteristic facial features, impaired blood
clotting, and indentation of the chest
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Osteogenesis Imperfecta - weakened muscles, brittle bones, curved spine, and impaired hearing
Parkinson’s Disease - impairment of the central nervous system
Patau Syndrome - non-disjunction of chromosome 13
Phenylketonuria - mental retardation, seizures, or brain damage
Porphyria - accumulation of porphyrin or its precursors in the body
Prune Belly Syndrome - presence of mass of wrinkled skin on the abdomen
Retinoblastoma - cancer of the retina
Rett Syndrome - decreased rate of head growth, small hands and feet, disabilities related to learning
communication, coordination and speech
Russell Silver Syndrome - poor growth, low birth weight, short height, and differences in the size of the
two sides of the body
Sanfilippo Syndrome - deficiency in one of the enzymes needed to break down the glycosaminoglycan
heparan sulfate
Schizencephaly - abnormal development of the brain
Shwachman Syndrome - exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal
abnormalities, and short stature
Sickle Cell Anemia - blood disorder causing sickling of the red blood cells
Smith-Lemli-Opitz Syndrome - distinctive facial features, small head size (microcephaly), intellectual
disability or learning problems, and behavioral problems
Spina Bifidia - malformations of the spinal cord
TAR Syndrome - absence of the radius bone in the forearm and reduced platelet count
Tay-Sachs Disease - damage of the nerve cells in brain and spinal cord
Turner Syndrome - lack of either one whole or a part of an X chromosome
Usher Syndrome - deafness and progressive loss of vision
Von Hippel-Lindau Syndrome - formation of tumors and fluid-filled sacs (cysts) in different parts of the
body
Waardenburg Syndrome - varying degrees of deafness and changes in hair and skin pigmentation
Wilson’s Disease - body’s inability to get rid of excess copper in the body
Xeroderma Pigmentosum - inability of the DNA to repair damage caused due to ultraviolet rays
XXXX Syndrome - two extra copies of the X chromosome in females
XXX Syndrome - extra copy of the X chromosome in females
XYY Syndrome - extra copy of the Y chromosome in males