Genetic Diseases and Syndromes

Websites

Genetics and Rare Conditions Site
"Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations." Enormous amount of informationand links.

Genetics Home Reference: Genetic Disorders A to Z  and related genes and chromosomes"...consumer-friendly information about the effects of genetic variations on human health."

MedlinePlus
Excellent information.  Key in your topic.

National Human Genome Research Institute
Information about numerous disorders including Achondroplasia, Cystic Fibrosis, Down Syndrome, Duchenne Muscular Dystrophy, Fragile X, Hemophilia, Huntington's Disease, Marfan Syndrome, Neurofibromatosis, Phenylketonuria(PKU), Sickle Cell Disease, Tay-Sachs, Thalassemia (alpha and beta).

National Institute of Neorological Disorders and Stroke
Excellent information about Huntington's Disease, Neurofibromatosis, Tay-Sachs, Tourette Syndrome,

U.S. National Library of Medicine
Key in your search term.  Excellent information.

Specific Genetic Disorders
The NHGRI divides its study of genetic disorders into three headings: specific genetic disorders, rare and orphan diseases, and rare hereditary genetic disorders. Students can learn about thirteen different specific genetic disorders, including breast cancer, cystic fibrosis, and Huntington's disease. The rare and orphan diseases studied are Duane Syndrome, Guillain-Barre Syndrome, and trimethylaminuria. ALPS and Pallister-Hall Syndrome are part of the hereditary disorders. Additional resources include a talking genetic glossary, and a disease information center for genetic and rare diseases.Topic: Genetic disorders, Chromosome abnormalities  Language: English Lexile: 1010 http://www.genome.gov

Genes and Inheritance
This in-depth source covers a great deal of material related to genes and inheritance and is filled with interactive features. As you read about genes and DNA you will have the opportunity to access definitions of terms, answer interactive questions that test your knowledge, and roll your mouse over diagrams to learn more. You will find information on DNA and cloning, DNA and inheritance, mutations, and inherited diseases. One man's story on cystic fibrosis is told and you will learn about gene therapy and genetic engineering.
Topic: DNA, Genetics, Genes   Language: English    Lexile: 1180  Animation  Interactive http://www.abpischools.org.uk

Slide Show : How Genetic Disorders are Inherited
The risk of getting a certain disease depends on a person's genes. Understand how genetic disorders are passed from parents to children with the help of this slide show from the Mayo Clinic. The slide show begins with a basic explanation of genes, chromosomes, and DNA in the body and explains that changes in some genes are what cause genetic disorders. Recessive and dominant genes are described and the autosomal dominant and autosomal recessive inheritance patterns and x-linked inheritance patterns are explained.
Topic: Genetic disorders   Language: English    Lexile: 900       http://www.mayoclinic.org

Achondroplasia
Achondroplasia is the most common form of short-limbed dwarfism, occurring in one of about 15,000-40,000 births. It is considered a bone growth disorder. There is a list of names that this disorder is sometimes called. You can read about the genetic information of this disorder. The long bones of the body, in particular, are affected. This disorder is inherited through an autosomal dominant pattern, and this is explained. Glossary terms are defined. There are links to information about treatment and management of achondroplasia, as well as general information about genetic conditions.
Topic: Growth disorders, Dwarfism   Language: English    Lexile: 1290       http://ghr.nlm.nih.gov

Albinism
People of all races can have the rare genetic disorder known as albinism. Often recognized by their white hair, pale skin, and pink eyes, people with albinism also have vision problems. Just a few minutes in the bright sun can cause sunburn so sunscreen with a high sun protection factor, sunglasses with ultraviolet protection, and protective clothes made of tightly-woven fabrics are necessities for people who lack melanin. Although there is no cure, these protective measures can minimize problems.
Topic: Albinos and albinism   Language: English        http://www.merck.com

Albinism
Animals, people, and even plants can lack the usual pigment that gives them their species' characteristic color. People lacking melanin may have very pale skin, white hair, and blue or red eyes. Eye problems are typical and the skin may be very susceptible to sunburn or skin cancer. Other than that, most are as healthy as anyone else. Albinism is not a contagious disease but an inherited genetic condition. If both parents carry the gene for albinism, their children have a one-in-four chance of having albinism.
Topic: Albinos and albinism   Language: English    Lexile: 1000  Audio      http://kidshealth.org

Alpha thalassemia X-linked mental retardation syndrome
A genetic condition described in this reference resource in Alpha thalassemia x-linked mental retardation syndrome. A series of questions are answered with detailed descriptions that tell you all about this syndrome. You will learn exactly what this condition is including what causes it and its most common characteristics. You will discover how common it is, what genes are responsible for the syndrome, and how people inherit Alpha thalassemia x-linked mental retardation syndrome. A collection of resources are presented at the bottom of this reference resource as well.
Topic: X-linked mental retardation   Language: English    Lexile: 1230       http://ghr.nlm.nih.gov

Alport Syndrome
The Genetics Home Reference web site provides an excellent overview of Alport syndrome. You will learn about how this genetic condition results in kidney disease, hearing loss, and eye abnormalities. Since Alport syndrome is an inherited condition, you will find out about the genes that are related to Alport syndrome and how the condition is passed down from parents to children. This authoritative site provides links to much additional information about Alport syndrome as well as glossary definitions, alternative names, and treatment options.
Topic: Alport's syndrome   Language: English    Lexile: 1290       http://ghr.nlm.nih.gov

Alport Syndrome Foundation
If you know someone who has Alport Syndrome or if you are learning about the disease, the Alport Syndrome Foundation web site is an excellent place to start. You will find educational articles explaining exactly what Alport Syndrome is and what causes it. Since there are three genetic forms of Alport Syndrome, you will discover how they differ. Discover how a child can inherit the syndrome from either the mother or the father. The site includes information about diagnosis, treatment, support groups, and research about Alport Syndrome.
Topic: Alport's syndrome   Language: English    Lexile: 1690        http://www.alportsyndrome.org

Angelman Syndrome 
Now named after the doctor who first discovered it, Angelman syndrome once derived its name from the cheerful disposition and jerky movements of the children with this genetic condition. Delayed motor developments start early but the syndrome is not usually diagnosed until the child is age three or later. Perhaps this is when the effects of the speech problems and cognitive disabilities become obvious. The physical characteristics of Angelman syndrome often develop during childhood and behavior problems are also evident. Treatment through therapy is beneficial but there is no cure.
Topic: Angelman syndrome   Language: English    Lexile: 1050       http://www.betterhealth.vic.gov.au

Angelman Syndrome 
Mostly affecting the nervous system, Angelman syndrome causes physical and cognitive disabilities, developmental delays, and speech impairment. Happy and easily excitable, children with this syndrome may be hyperactive and laugh a lot. Sleep problems and seizures are common. Their hair and skin may be lighter than their parents because of the missing segment. Find out how often this genetic condition occurs and which chromosome is affected. Typically occurring in early embryonic development, it is genetic but not usually inherited.
Topic: Angelman syndrome   Language: English    Lexile: 1200       http://ghr.nlm.nih.gov

NINDS Angelman Syndrome Information Page
In 1965, physician Harry Angelman discovered a group of symptoms that are associated with the syndrome named after him. Speech is greatly impaired, movements are jerky, and laughter and seizures are common in children with Angelman syndrome. Investigate other physical and behavioral symptoms associated with this genetic disorder. Medicines treat the seizures but the rest of the symptoms are dealt with through physical, occupational, speech, and behavioral therapy. Treatment is designed to maximize potential and improve quality of life.
Topic: Angelman syndrome   Language: English    Lexile: 1290       http://www.ninds.nih.gov

Beta Thalassemia (Cooley's Anemia)
Cooley's anemia is when both beta chains of the hemoglobin have genetic deletions. Signs and symptoms usually first appear in the first two years of life. Without treatment, heart failure may occur in teens or young adults from iron build-up. If the cause of the anemia is assumed to be iron deficiency, iron replacement can be dangerous. Both parents must be carriers for a child to inherit beta thalassemia major, but children with beta thalassemia intermedia can also have moderate to severe anemia. Regular blood transfusions, iron chelation therapy, and bone marrow transplantation are treatments.
Topic: Thalassemia (Cooley's anemia)   Language: English    Lexile: 1230       http://www.lpch.org

Brittle Bone Society
Frequently asked questions about Osteogenesis imperfecta are answered at the web site of the Brittle Bone Society.
You will find a description of the genetic disorder and notes about what causes the condition. Learn about the symptoms and about other related health issues for those who have OI. Under the help and advice section of the site there are information sheets about babies and children with OI. Also included are news and events and a link to many other resources.
Topic: Bones--Diseases and disorders, Genetic disorders, Osteogenesis imperfecta          http://www.brittlebone.org

Charcot-Marie-Tooth Disease
This report on Charcot-Marie-Tooth disease is part of a guide to understanding genetic conditions. The contents of the report are presented at the top of the page and also allow you to jump to a particular section. You will find a description of Charcot-Marie-Tooth disease, learn approximately how many people this disease affects, and discover the genes that are related to this disease. You will also find out how people inherit Charcot-Marie-Tooth disease and learn the alternate names for this disease.
Topic: Charcot-Marie-Tooth disease   Language: English    Lexile: 1260       http://ghr.nlm.nih.gov 

Charcot-Marie-Tooth Disease
This overview provides you with general information on Charcot-Marie-Tooth disease. It tells you what type of disease this is, how it was named, and approximately how many people have this disease. It explains what nerves are affected by this disease and the symptoms that may be evident. There is a bit of information on the various treatments available and the prognosis of the disease. Links to additional information on Charcot-Marie-Tooth disease are available as well.
Topic: Charcot-Marie-Tooth disease   Language: English, Spanish  Lexile: 870      http://www.nlm.nih.gov

Choroideremia
Choroideremia, formerly known as tapetochoroidal dystrophy, is an inherited vision disorder that affects males almost exclusively, and causes night blindness, a loss of peripheral vision, and eventually a loss of central vision. The Foundation Fighting Blindness provides information about this disease on their web site, including symptoms, the genetic component, and related disorders sometimes confused with choroideremia. You'll learn about recent research developments that provide hope for sufferers and their families and the devices, training, and services that help persons until a cure is found.
Topic: Vision disorders   Language: English    Lexile: 1210        http://www.blindness.org

Cystic Fibrosis
Here is an authoritative yet easy-to-understand article on cystic fibrosis. It provides important details about this inherited disease that shortens the lives of many children and young people. Find out how it affects them, how it can be detected, which children are more likely to be affected, and how it can be treated. There is access to more articles on this topic, related resources, and a glossary. This excellent site provided by the Nemours Foundation can be searched by keyword.
Topic: Cystic fibrosis   Language: English    Lexile: 1350       http://kidshealth.org

An Overview of the Development of Teenagers with Down Syndrome (11-16 Years)
This summary of issues related to the healthy physical and mental development of young people between the ages of 11 and 16 years old with Down syndrome includes a learning profile of specific strengths and weaknesses that can be addressed by occupational therapy. One of the many resources containing advice and recommendations for parents, teachers, and those seeking a better understanding of this illness from Down Syndrome Online, these pages analyze the influence of environment and extent of developmental delay on the type of therapy or learning activities chosen for teens.
Topic: Down syndrome, Occupational therapy for teenagers   Language: English  Lexile: 1470  http://www.down-syndrome.org

Down Syndrome
Understand that Down syndrome is typically caused by faulty cell division rather than an inherited condition. Explore the most common symptoms of this genetic condition including facial features, developmental delays, mental impairment, and decreased muscle tone. Find out how common this condition is and how prenatal testing can diagnose it. Learn how Down syndrome is caused by an extra or translocated chromosome. Discover whether a person with Down syndrome can pass the condition on to their children. Watch videos of medical experts and parents of Down syndrome children discussing the joys and challenges of raising kids with Down syndrome.
Topic: Down syndrome   Language: English    Lexile: BR  Interactive        http://www.ygyh.org

Facts About Down Syndrome
Delayed physical and mental development results in one in every eight hundred births due to Down syndrome. This common chromosomal disorder occurs across the boundaries of race and socioeconomic status. Discover how Down syndrome is diagnosed at birth through identifying characteristics and the use of a karyotype that displays the extra chromosome. Mild to moderate impairments are addressed through early intervention strategies that give kids with Down syndrome the opportunity to develop their gifts and talents. Investigate heart defects and other health conditions that frequently accompany Down syndrome. Explore the differences between prenatal screening and diagnostic tests.
Topic: Down syndrome   Language: English    Lexile: 1070        http://www.nads.org

Dwarfism
Dwarfism is a physical condition caused by a gene mutation. It is not a mental illness. You should treat people with dwarfism as just that a person with a physical difference. More than 200 conditions, most of which are genetic, can cause dwarfism. The most common are explained. Physical problems these people may face are listed. There is a list of tips for people who have a family member with one of these conditions. There are also links to genetic testing and growth disorders.
Topic: Dwarfs, Dwarfism   Language: English    Lexile: 1260  Audio       http://www.kidshealth.org

Dwarfism and Bone Dysplasias
Get the facts about dwarfism and bone dysplasias from the Seattle Children's Hospital web site. Children can be shorter than others their age for many reason, but it is important to know if their bones do not have the ability to grow to an average length. This could mean that they have bone dysplasias that can result in dwarfism. Learn about the symptoms and diagnosis of dwarfism and bone dysplasias. Find out what treatment options are available and what the different types of surgeries might be. Highlighted words are defined when you click on them.
Topic: Dwarfism, Bones--Diseases and disorders, Bones--Terminology   Language: English    Lexile: 1130        http://www.seattlechildrens.org

NINDS Epilepsy Information Page
Epilepsy is a brain disorder which causes neurons to signal abnormally. Learn more about this disease and what causes it from the web site of the National Institute of Neurological Disorders and Stroke. You will find out what treatment options are available and what the prognosis is for someone with epilepsy. This site lists information for organizations that can help with epilepsy and also includes a long list of related publications as well as additional resources from Medline.
Topic: Epilepsy   Language: English   Lexile: 1360  Audio       http://www.ninds.nih.gov 

Epilepsy
Epilepsy is a condition that affects the nervous system and one that with treatment can often be controlled. This disorder can be especially confusing for children and teenagers. This web site helps young people who are affected by this condition to better understand causes and treatments that are available. There is a section on both partial and generalized seizures which describes situations that could possibly trigger a seizure. Most importantly, the section on living with epilepsy describes how you can help someone if they are having a seizure.
Topic: Epilepsy   Language: English, Spanish   Lexile: 1080  Audio       http://kidshealth.org

Fragile X Syndrome
The most common known genetic cause of intellectual and developmental disability, Fragile X causes developmental delays in sitting, walking, and talking. Discover other physical and behavioral signs, as you learn more about this inherited syndrome that affects one in 4,000 boys and one in 7,000 girls. Fragile X increases the incidence of autism and ADHD in affected children, and boys are typically more severely affected than girls. Investigate trinucleotide repeat disorders and how the gene repeats itself two hundred times causing it to turn off and no longer make the proper proteins.
Topic: Fragile X syndrome   Language: English          http://www.cdc.gov

Fragile X Syndrome
With symptoms ranging from mild to severe, Fragile X is an inherited genetic mutation that causes mental retardation and even autism. This fragile gene can be passed along silently for generations before expanding into the full mutation. Investigate physical characteristics and behaviors of children with Fragile X, and learn about genetic testing for this disorder. Although testing is not done routinely, you can find out who should be tested and what kinds of tests are available. Although the syndrome has no cure, early intervention and treatment can help children reach their full potential.
Topic: Fragile X syndrome   Language: English    Lexile: 1040        http://www.uofmhealth.org

Hemochromatosis
A genetic disorder that causes the body to absorb too much iron is hemochromatosis. Find out what happens to the body when it stores too much iron and learn the early signs of the disease. See how the disease is classified by type depending on the age of onset and on genetic cause and mode of inheritance. Learn how common the disease is and discover what genes are related to hemochromatosis. You will find facts about how the disease is inherited and get a list of resources that address diagnosis and management. A glossy can help with unfamiliar terms.
Topic: Hemochromatosis   Language: English   Lexile: 1250     http://ghr.nlm.nih.gov 

Hemochromatosis
A blood disorder called hemochromatosis is explained at the web site of the Ohio State University Medical Center. Find out what causes this disease that causes the body to have an overload of iron. Learn about primary hemochromatosis and understand how genetics play a role in this hereditary disease. The most common symptoms of hemochromatosis are listed and there is a list of what can happen if hemochromatosis is not treated. Find out what tests are done to diagnose the disease in addition to a common blood test.
Topic: Hemochromatosis   Language: English    Lexile: 1040       http://medicalcenter.osu.edu

Hemophilia
What is hemophilia? Discover the two mutated genes that may cause hemophilia. Find out why many people with hemophilia in the 1980s became infected with HIV. People with hemophilia can give themselves injections of the missing clotting factors. Untreated hemophilia can lead to painful arthritis from internal bleeding or can even cause a person to bleed to death. More common in males, it does sometimes affect females. An animated illustration shows why people with hemophilia can bleed for days. Investigate how it is inherited. Video clips describe hemophilia treatments and provide advice for dealing with the disease.
Topic: Hemophilia, Blood--Diseases   Language: English    Lexile: BR  Interactive  http://www.yourgenesyourhealth.org 

Hemophilia
About 1 in 8,000 boys will be born with hemophilia, but girls are rarely affected. Kids Health will help you to understand the genetic factors surrounding hemophilia which is a condition where the blood does not have clotting properties. Detection of hemophilia might not occur soon after birth, because there is hopefully no injury to an infant that wound cause bleeding. So, detection might be linked with an immediate need for treatment. Learning to recognize the signs and symptoms such as prolonged nosebleeds might help you to recognize the disease sooner.
Topic: Hemophilia   Language: English    Lexile: 1230  Audio     http://kidshealth.org

NINDS Huntington's Disease Information Page
The National Institute of Neurological Disorders and Stroke has compiled information on the genetic neurological disorder known as Huntington's disease. The author of this site explains in detail the process by which this genetic disease is passed from parent to child, and explains common symptoms of the disease. Readers will find information about prognosis of the HD, and drugs that are used to treat some of the symptoms of this incurable disease. There is also information about research that is currently being done on Huntington's disease.
Topic: Huntington's chorea   Language: English    Lexile: 1430  Audio        http://www.ninds.nih.gov

Huntington's Disease Society of America
The Huntington's Disease Society of America aims to educate people and families who are suffering from HD and to raise awareness in the hopes that there will, one day, be a cure. Readers will find information about Huntington's disease on this site, including how it is passed on genetically from parent to child, symptoms that can be present, treatment options, prognosis of the disease, and research currently being done. There is also information about genetic testing that can be done for those who have a history of HD in their families.
Topic: Huntington's chorea   Language: English    Lexile: 1230     http://www.hdsa.org

Huntington's Disease
Huntington's disease is a rare disease which affects the nerve cells of the brain and causes memory loss and involuntary movements that become more severe over time. This web site from the University of Iowa teaches readers about the symptoms of this disease and when they most often occur. Readers will learn about the treatment options that are available to help minimize the effects of this disease, and how it is a genetic defect that causes HD.
Topic: Huntington's chorea   Language: English    Lexile: 920       http://www.uihealthcare.org

Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome, also called progeria, is a rare and fatal genetic disease found in children. It is so rare, that it only occurs in about one in four million children. Scientists have identified the genetic mutations in the LMNA gene that cause the syndrome, which cause the child to age at an accelerated rate. You can learn about the symptoms of this disease, and more, when you research the information on this site.
Topic: Progeria   Language: English    Lexile: 1330       http://ghr.nlm.nih.gov 

Kleine Levin Syndrome
Published by the Center for Narcolepsy at Stanford’s School of Medicine, this site explains the purpose of a new study that promises hope for Kleine Levin Syndrome (KLS) sufferers. The goal of this study is to find whether KLS is an autoimmune disease or related to other genetic factors. Advanced researchers will gain insight into why scientists think KLS could be an autoimmune response, as well as how they are testing this hypothesis. Additionally, a synopsis of the disorder and its symptoms is offered for those who are just learning about this syndrome.
Topic: Kleine-Levin Syndrome   Language: English    Lexile: 1290       http://psychiatry.stanford.edu

Kleine Levin Syndrome
Visit the National Institutes of Health's Office of Rare Diseases Research web site to learn about Kleine Levin syndrome (KLS). This rare disorder is characterized by periods of excessive sleep and primarily affects adolescent males. Find out what other abnormal behaviors sometimes go along with KLS. Affected individuals experience episodes at random times and may not remember everything that happened during an episode. This site includes additional information, including links to more detailed information, organizations, conferences, clinical trials and research.
Topic: Kleine-Levin Syndrome   Language: English    Lexile: 1180       http://rarediseases.info.nih.gov

Klinefelter's Syndrome
Males who have an XXY chromosome makeup instead of the usual XY makeup have a condition called Klinefelter's syndrome, and are sometimes referred to as XXY males. These males have significantly less testosterone than other males, which may lead to less facial and body hair as well as less muscle tone. XXY males may also have other physical, language and social delays that are discussed on this site. Not all XXY males have every symptom and treatment is available to assist XXY males to cope with their diagnosis.
Topic: Klinefelter's syndrome   Language: English, Spanish   Lexile: 1110    http://www.nlm.nih.gov

Klinefelter Syndrome
This site from the Better Health Channel provides readers with information about a condition called Klinefelter syndrome. Klinefelter syndrome affects males only and is the result of an extra chromosome resulting in an XXY combination instead of the usual XY. This site discusses some of the effects of this conditions that some may experience, as well as information about signs and symptoms that may develop at different stages of their development. There is also information about possible complications, diagnosis, and treatment options.
Topic: Klinefelter's syndrome   Language: English    Lexile: 1150       http://www.betterhealth.vic.gov.au

Leukemia
Work your way through this interactive tutorial to learn about the type of cancer called leukemia. The tutorial is narrated and also has images. Find out how cancer cells develop and get an explanation of what leukemia is. The symptoms of chronic leukemia and acute leukemia are described. Find out how leukemia is diagnosed. You will learn that treatment for leukemia varies depending on the type of leukemia. Chemotherapy, radiation and transplantation as treatment options are discussed.
Topic: Leukemia   Language: English   Lexile: 890  Interactive      http://www.nlm.nih.gov

Leukemia
Although people often associate leukemia with children, more adults are affected by the disease. Find out where the name leukemia comes from and how the disease begins in the body. The four main types of leukemia re discussed at the site and the symptoms of the disease are listed. There is discussion about the cause of leukemia and a list of symptoms that may appear. See how leukemia is diagnosed, how it is treated and when to contact a physician.
Topic: Leukemia, Blood--Diseases   Language: English    Lexile: 1290       http://my.clevelandclinic.org

Meniere 's Disease
French physician Prosper Meniere first described a unique syndrome in 1861 which affects only one ear and is a common cause of hearing loss. Meniere's disease has a multitude of symptoms which can include severe dizziness, a roaring sound in the ears, and fluctuating hearing loss. The National Institute on Deafness and Other Communication Disorders has created a great source of information about the causes, diagnosis and treatments of Menier's disease. In addition, you will be able to access current research being done and additional information of this hearing disorder which affects many.
Topic: Hearing, Equilibrium, Hearing disorders   Language: English  Lexile: 1190    http://www.nidcd.nih.gov
Additional:  https://www.nidcd.nih.gov/newsletter/2011/winter/nih-health-forum-explains-commonly-misunderstood-diseases

Meniere's Disease and Sodium
For people with Meniere's disease, a health condition that causes vertigo or dizziness, eating a low sodium diet can reduce the frequency of problems. Restricting salt intake to 1,000 mg a day has been found to help because a low sodium diet reduces the accumulation of fluid in the ear. Analyzing labels on processed food for sodium content, asking for low-sodium options at restaurants, and checking the sodium content of drinking water are some steps they can take to reduce salt intake in their diet. Better balance and less chance on falling is worth the effort.
Topic: Salt-free diet   Language: English      http://www.peacehealth.org

Menkes Syndrome
Menkes syndrome is a rare genetic condition that is sometimes responsible for an infant's failure to thrive. This genetic mutation makes the body unable to regulate copper levels. Some parts of the body get too much copper, which is toxic. Other cells don't get enough and this affects the development of the bones, muscles, hair, and nervous system. Seizures and developmental delays are common and life expectancy is short. This condition is linked to the X chromosome but may occur as a result of a new mutation. Occipital horn syndrome is a less severe form of Menkes syndrome.
Topic: Copper--Metabolism--Disorders   Language: English    Lexile: 1190    http://ghr.nlm.nih.gov 

Menkes Syndrome
A metabolic disorder that some people are born with, Menkes syndrome affects the cells ability to take in copper. The inability to transport copper affects bones and nerves, causing brain degeneration and changes to the arteries. Copper histidinate, given in the first few months after birth, can increase life expectancy by ten years. Menkes syndrome changes the way a person's hair looks under a microscope, providing a simple way to diagnose this condition. Research is underway to discover a way to treat this fatal metabolic syndrome.
Topic: Copper--Metabolism--Disorders   Language: English        http://www.ncbi.nlm.nih.gov

Neurofibromatosis
Learn important facts about neurofibromatosis by rolling over the icons found on the opening page of this informational report. Once you are familiar with this disorder you can learn more by browsing through the buttons in the margin. You will find detailed information, animations, and video clips on the causes of neurofibromatosis and you will discover how it is inherited, diagnosed, and treated. There are also video clips that show you what it is like to have this disorder.
Topic: Neurofibromatosis   Language: English    Lexile: BR  Interactive    http://www.yourgenesyourhealth.org

Neurofibromatosis
Neurofibromatosis is a condition usually diagnosed in childhood that produces skin and bone abnormalities due to tumors growing on nerve tissue. Following a clear description this article tells you more about this inherited disease including the different types of neurofibromatosis, the various signs and symptoms, and the causes of each type. Detailed information on the diagnosis of the disease and possible treatment options can also be found along with tips on caring for a child with neurofibromatosis.
Topic: Neurofibromatosis   Language: English, Spanish    Lexile: 1060  Audio       http://kidshealth.org

Health Topics: Osteogenesis Imperfecta Overview
Osteogenesis Imperfecta is a bone disease that causes your bones to break for no apparent reason. This is due to a lack of collagen in your body. If you are diagnosed with this disease, you will be placed in one of six categories, depending on the severity and characteristics of the disease in your body. Most people who have this disease also have family members who have it, but some people have a genetic mutation that causes it. This website gives a lot of detailed information, including risk factors and treatment.
Topic: Genetic disorders, Bones--Diseases and disorders   Language: English  Lexile: 780 http://www.niams.nih.gov

PKD Foundation: Learn
Learn about polycystic kidney disease and how it affects families with the disease. Discover the differences between ADPKD and ARPKD. Affecting about 1 in 500 people, ADPKD is passed down through the generations in families with
a history of the disease. ARPKD is much rarer but has a high early mortality rate. Investigate the science behind PKD
as you study the genetic mutations that cause it and the way cysts forms. Find out about the latest research, the reality of transplants and dialysis, and living with PKD.
Topic: Polycystic kidney disease   Language: English    Lexile: 920        http://www.pkdcure.org

Polycystic Kidney Disease
The symptoms of both forms of polycystic kidney disease are similar but the genetic causes differ. The dominant form can be inherited from one parent while the recessive form requires both. Cysts enlarge the kidneys but make them work less efficiently. High blood pressure, heart disease, and kidney failure may result. Examine the incidence, and find out when symptoms usually show up. Genetic testing and ultrasounds are used for diagnosis. Study genetic causes and treatment options. Video clips tell about one family's experience with PKD.

Polycystic Kidney Disease
This genetically inherited disease often leads to kidney failure from the multiple cysts that develop in both kidneys. Patients are prone to kidney stones and urinary tract infections. Cysts may appear on other organs and complications may also affect the heart and brain. Polycystic kidney disease is caused by a mutation on the 4th or 16th chromosome along with other factors not yet fully understood. Diagnosis is established through an imaging study, family history, and sometimes DNA sequencing. High water intake and a low caffeine, sodium, and protein diet may help in reducing cyst formation.
Topic: Polycystic kidney disease   Language: English    Lexile: 1290     http://my.clevelandclinic.org

What Is Prader-Willi Syndrome?
A genetic cause of obesity in children, Prader-Willi Syndrome (PWS) affects about one in 15,000 children. Low muscle tone, short stature, and low metabolism are complicated by a chronic feeling of hunger. Constant supervision is necessary to prevent compulsive eating and extreme obesity. The scientific term for hunger not satisfied by food is hyperphagia. Endocrinologists first observed this disorder in the 1960s. Analyze the genetic cause, diagnostic criteria, and clinical findings associated with Prader-Willi. PWS research focuses on trying to identify what triggers the constant hunger and how to stop it.
Topic: Prader-Willi syndrome   Language: English    Lexile: 1290        http://www.pwsausa.org

About Prader-Willi Syndrome 
Affecting only one in 15,000 kids, Prader-Willi syndrome is the leading genetic cause of obesity. Although kids with PWS are usually short and have delayed motor development, they often become obese at a young age due to insatiable hunger. Scientists don't yet know that connection between a chromosome abnormality and the hypothalamus dysfunction that affects hunger, satiety, sexual development, and emotions. Discover other challenges connected with PWS as you examine genetic aspects of this health condition.
Topic: Prader-Willi syndrome   Language: English          http://www.fpwr.org

About Progeria
Progeria is another name for Hutchinson-Gilford Progeria Syndrome (HGPS). This medical syndrome is a rare, fatal, genetic condition in children. Children with this syndrome prematurely age at an accelerated rate. The Progeria Research Foundation offers this website with information on this genetic disease. You can read a more detailed description about progeria on this site. In addition, you can access articles such as Progeria 101, The Science behind Progeria, and medical research articles on progeria.
Topic: Progeria   Language: English    Lexile: 1250       http://www.progeriaresearch.org

Stargardt Disease 
The most common form of juvenile macular degeneration, Stargardt disease is inherited and develops during childhood or adolescence. The macula deteriorates, causing a loss in central vision. Those with this disease gradually lose the ability to see well enough to read, write, or drive. Vision cannot be corrected with glasses, lenses, or surgery. Symptoms include blind spots, problems with color perception, and difficulties adapting to dim environments. An ophthalmologist may see yellow flecks in the retina, and further tests are done to see how the retina responds to light. Researchers are working on potential genetic, stem cell, or drug treatments.
Topic: Macular degeneration   Language: English    Lexile: 1190       http://www.ucsfhealth.org 

Sickle Cell Disease 
Exploring the key facts about sickle cell anemia is as easy as rolling your mouse over icons. If you would like to learn more about any given topic, you have the option of clicking on any related question located near the icons. What you will find is a wealth of information presented in an animated and interactive manner that lets you actually see what sickle cell anemia looks like, what causes it, and how it is treated. Some sections even have videos that offer you another perspective of this hereditary disease.
Topic: Sickle cell anemia, Blood--Diseases   Language: English   Lexile: BR  Interactive   http://yourgenesyourhealth.org

Sickle Cell Anemia
Sickle cell anemia was named after the shape of the red blood cells that are characteristic of this condition. This animation explains sickle cell anemia and demonstrates the shape of the red blood cells and how they get caught in small blood vessels depriving parts of the body of oxygen. It then shows you how a single change in DNA affects hemoglobin in a way that causes sickle cell anemia. The animation is approximately one minute long.
Topic: Sickle cell anemia, Hemoglobin   Language: English   Lexile: 1370  Animation     http://hhmi.org

Tay-Sachs Disease
A progressive neurodegenerative disease, Tay-Sachs is frequently fatal in young babies diagnosed with this disease. Paralysis and seizures lead to an inability to swallow or breathe. Blindness and deafness are also common. If the symptoms of Tay-Sachs appear later in life, they are less severe. Caused by a mutated gene, Tah-Sachs interferes with waste processing at the cellular level. Gangliosides build up and destroy nerve cells in the brain. Learn about research into treatment options for Tay-Sachs.
Topic: Tay-Sachs disease   Language: English    Lexile: 1270        http://www.brainfacts.org

Tay-Sachs Disease
Individualized treatment programs are available to Tay-Sachs patients at Mayo Clinic. Diagnosis is made based on symptoms, family health history, and blood tests to measure hexosaminidase A levels and check for genetic mutations. This genetic disease causes the brain and nervous system to deteriorate. It occurs more frequently among certain ethnic groups and requires that the recessive gene be inherited from both parents. Learn about respiratory care, assistive feeding devises, and physical therapy for Tay-Sachs symptoms.
Topic: Tay-Sachs disease   Language: English    Lexile: 1250        http://www.mayoclinic.org

Tay-Sachs Disease 
A rare and fatal disease that causes fatty substances to build up in the cells and tissues, Tay-Sachs eventually destroys nerve cells in the brain. Infants born with Tay-Sachs initially appear normal until the nerve cells get burdened by the build-up. Physical and cognitive abilities deteriorate as the babies become paralyzed and unable to swallow. Muscles atrophy, sight and hearing are lost, and feeding tubes are necessary. This resource provides many links to learn more about the disease.
Topic: Tay-Sachs disease   Language: English, Spanish    Lexile: 810        http://www.nlm.nih.gov

What Should You Know About Thalassemia?
Affecting about 1,000 Americans, thalassemia is a genetic blood disorder that affects the ability of the red blood cells to make hemoglobin. Cooley's anemia is a severe form that requires lifelong, frequent blood transfusions. The CDC's role in managing this disease is funding care centers and a surveillance system. There are seven care centers throughout the United States including Oakland, Los Angeles, Chicago, Philadelphia, Atlanta, and Boston. An unknown number of carriers also exist. Thalassemia is particularly common among those of Mediterranean, Middle Eastern, and Southeast Asian descent.
Topic: Thalassemia (Cooley's anemia)   Language: English    Lexile: 1210        http://www.cdc.gov

Thalassemia
Several million people around the world have thalassemia disorders and as many as 300 million are carriers. This genetic disorder compromises hemoglobin production, causing anemia since the red blood cells don't carry enough oxygen. Blood tests can diagnose thalassemia, and blood transfusions are needed for severe forms. Children receiving frequent transfusions also need to be monitored for iron overload. Research into stem cell treatments and other iron chelation therapies is underway. Understand the different types of thalassemia and become familiar with primary symptoms. Life expectancy continues to improve with improved treatments.
Topic: Thalassemia (Cooley's anemia)   Language: English    Lexile: 1050    http://www.childrenshospital.org

Turner Syndrome
Understand how Turner Syndrome affects a teenager when the disease causes outward symptoms that can cause a lack of self esteem. Turner Syndrome can be diagnosed at birth or when puberty begins by a blood test called a karyotype which counts the number of a person's chromosomes and determines irregularities. Turner affects everyone differently, and with a physicians care, most can lead normal lives. Teen Health offers several creative ideas to help someone cope with the effects of the disease and live a happy and productive life.
Topic: Turner's syndrome   Language: English    Lexile: 1270  Audio       http://www.kidshealth.org 

Turner Syndrome (Monosomy X) 
Aurora Health Care presents information about the disease Turner Syndrome. This report includes many additional reports about health related topics. Extra information discusses a condition that some girls with Turner Syndrome experience called carctation of the aorta. Sections of interest about Turner Syndrome include definition, causes, risk factors, symptoms, diagnosis, treatment, growth hormone, and estrogen replacement therapy. Turner Syndrome is a genetic disorder of the chromosomes in females.
Topic: Turner's syndrome   Language: English    Lexile: 1150        http://www.aurorahealthcare.org

Turners Syndrome
WebMD Children's Health summarizes the symptoms, causes and treatment for a genetic disease called Turners Syndrome. Turners affects girls who have an unknown gene that controls the development of the ovaries. The symptoms might not appear until late teens, but there are different stages of the syndrome. This article details the effects of Turners and how the physicians will treat the patient to help maintain normal physical development and bone health. There are even treatment methods that might allow the possibility of embryo development.
Topic: Turner's syndrome   Language: English    Lexile: 960        http://children.webmd.com

Usher Syndrome
Usher syndrome is a genetic, or inherited, disorder that affects both vision and hearing. Both parents must have the gene for Usher syndrome for the child to show signs of the disorder, because the genes are autosomal recessive. Individual situations vary, depending on the type. For example, in the first type of Usher syndrome, individuals are born profoundly deaf with balance problems. In the second type, people have moderate to severe hearing loss, use hearing aids and communicate with speech, and have normal balance. In type three, children are born normal, and hearing and vision deteriorate later.
Topic: Deafness--Genetic aspects, Hearing impaired, Equilibrium, Hearing disorders   Language: English    Lexile: 1350       http://www.nidcd.nih.gov

Usher Syndrome
The organization, Foundation Fighting Blindness, provides resources for those affected by blindness and advocates for research into the causes of blindness and potential cures. Their web site provides information about different vision disorders, and on this web page you'll learn about the inherited condition Usher Syndrome, the three different forms of the disorder, symptoms, and related diseases. Details on research and clinical trials currently taking place are provided, including retinal cell transplantation, nutritional therapy, and gene therapy.
Topic: Vision disorders   Language: English    Lexile: 1270        http://www.blindness.org

Wilson's Disease
An inherited disorder that damages the liver and nervous system, Wilson's disease is caused by a genetic mutation that causes the human body to retain too much copper. When both parents carry the mutated gene, one in four children will develop Wilson's disease. Most common among those of Mediterranean and Eastern European descent, Wilson's disease appears between the ages of four and forty. Identify typical symptoms and learn about tests that can diagnose this condition. Investigate potential lifelong treatments to eliminate or bind excess copper. Learn about dietary restriction and potential complications.
Topic: Copper--Metabolism--Disorders, Hepatolenticular degeneration   Language: English, Spanish    Lexile: 1000       http://www.nlm.nih.gov

Wilson's Disease
Wilson's disease is another name for Hepatolenticular degeneration, an inherited eye disorder. The overview to this article found on the opening page provides you with a definition of Wilson's disease and describes the causes, incidence, and risk factors involved with this disease. You will also find an interactive table of contents that allows you to access the remaining sections of the article. You will find information on the symptoms of Wilson's disease, the possible treatments, and the means of prevention.
Topic: Hepatolenticular degeneration   Language: English    Lexile: 1070       http://umm.edu