Rare Diseases Sitemap - Page 1 2016-09-26

Fitz Hugh Curtis Syndrome: The Symptoms and Diagnosis
Fitz-Hugh-Curtis syndrome causes inflammation in the abdomen and around the liver. Learn more about the disorder's symptoms, diagnosis, and treatment.

Jeune Syndrome - Genetic Disorder
Understanding Jeune syndrome or asphyxiating thoracic dystrophy, a genetic disorder involving repeated respiratory infections.

Maple Syrup Urine Disease Symptoms
Understanding maple syrup urine disease, a genetic disorder involving high blood amino acid levels causing a characteristic urine smell.

Gitelman Syndrome: An Inherited Kidney Disease
Information about Gitelman syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.

Information About Leprosy (Hansen's Disease)
Leprosy, also known as Hansen's Disease, is n illness mentioned in the Bible. While rare, it still is extremely harmful and can be spread.

Primary Lateral Sclerosis (PLS): Symptoms and Treatment
Primary lateral sclerosis (PLS) is a neuromuscular disorder. Learn more about the symptoms, diagnosis, and treatment available for this rare disease.

What Is Meckel-Gruber Syndrome?
Meckel-Gruber syndrome is a genetic condition that is fatal for newborns. Learn more about what causes Meckel-Gruber syndrome and common symptoms.

What is a Seizure? Learn the Symptoms, Types, and Causes
What is a seizure and what causes it? There are many types as abnormal electrical activity in the brain can lead to severe symptoms and convulsions.

What Is Gene Therapy?
Gene therapy has the potential to save lives by treating disease, but the science behind it is still a work in progress. Learn more about gene therapy.

What Is Mycosis Fungoides? Learn More About MF Cancer
Mycosis fungoides is a type of cutaneous T-cell lymphoma. Learn more about MF cancer, including its symptoms, diagnosis and various treatment options.

What Is Multiple System Atrophy?
Multiple system atrophy is a progressive disorder which affects multiple parts of the nervous system. Learn more about the symptoms of MSA.

Smallpox - Symptoms, Vaccination and History
Learn more about smallpox disease, including symptoms, the U.S. vaccination program, and issues about its use as a biological weapon.

What Is Abetalipoproteinemia?
Abetalipoproteinemia is a rare disease that makes it difficult for the body to absorb fat. Learn more about this condition and how it is treated.

Asperger Syndrome: Did Einstein or Newton Have Autism?
Asperger syndrome—Did Albert Einstein or Isaac Newton have the condition as they both had symptoms of developmental disorder in the autism spectrum?

What Is Blackfan Diamond Anemia?
Information about Blackfan Diamond anemia including its symptoms, diagnosis, and treatment.

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Signs, Symptoms and Treatments for Bubonic Plague
Information about bubonic plague, otherwise known as

What is Celiac Disease?
Information about celiac disease including its symptoms, diagnosis, and treatment.

What is Trisomy 18?
An overview of Trisomy 18, a chromosomal disease also called Edwards syndrome, including its symptoms, diagnosis, and treatment.

What Is Charcot-Marie-Tooth Disease?
Charcot-Marie-Tooth disease (CMT) represents a group of disorders that cause defects in the nerves of your arms and legs. Learn about this rare disease.

What Is Eosinophilia-Myalgia Syndrome?
Eosinophilia-myalgia syndrome is a rare disorder that causes inflammation in different parts of the body. Learn more about the symptoms of EMS.

Autoimmune Kidney Disease (IgA Nephropathy)
IgA nephropathy (autoimmune kidney disease) causes damage to the kidneys through the abnormal buildup of a protein.

Kartagener Syndrome Information - Respiratory Problems
Kartagener Syndrome is a rare respiratory disease that is an inherited disorder. While it can be a serious condition, it can be managed.

Krabbe Disease Symptoms and Treatment
Krabbe disease is a degenerative disease that affects the nervous system. Learn more about the symptoms and treatments for Krabbe disease.

Menkes Disease
Menkes disease is a rare neurodegenerative disease that affects the body's ability to absorb copper. Learn about symptoms, diagnosis and treatment options.

What Is Mitochondrial Disease?
Mitochondrial disease affects multiple organ systems throughout the body. Learn more about mitochondrial disease and how to treat it.

Christmas Disease and Hemophilia
Article describes hemophilia, its history and discovery, hemophilia A (classic hemophilia) and hemophilia B (Christmas disease), and their treatment.

Rain Man Disease: Savant Syndrome and Brain Dysfunction
Savant syndrome was the rainman disease in the movie

What is Niemann-Pick Disease?
Information about the types of Niemann-Pick diseases including symptoms, diagnosis, and treatments.

Peyronie's Disease - Information about Peyronie's Disease
Information about Peyronie's disease (curvature of the penis), a form of erectile dysfunction, including symptoms, diagnosis, and treatments.

What Is Poland Syndrome?
Poland syndrome is a rare disease that affects the muscles on one side of the body. Learn more about the symptoms and treatment of Poland syndrome.

Symptoms and Treatment Options for Carpenter Syndrome
Information about Carpenter syndrome, a syndrome of genetic birth defects, including its symptoms, diagnosis, and treatment.

Wondering What DNA Testing Is? We Start With the Basics
Wondering what is DNA testing? Learn more about how it's done, why, what information you can learn about your chromosomes, genetics and the costs.

What Is Von Hippel-Lindau Disease?
VHL causes tumors, both cancerous and non-cancerous, to grow throughout the body. Learn more about VHL symptoms.

What Is Blood Disorder POEMS Syndrome?
POEMS syndrome is a blood disorder that affects many parts of the body and has many symptoms. It affects men and women and usually begins after 50.

Feelings While Waiting for a Diagnosis
Waiting for a diagnosis can be a difficult and emotional time. These are some of the feelings you may have while waiting for a rare disease diagnosis.

Bartter Syndrome Symptoms and Treatment
Information about Bartter syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.

The Minamata Disaster and the Disease That Followed
For over a decade, the people of Minamata were being poisoned in what is now known as the Minamata disaster. Learn more about Minamata disease.

Phenylketonuria (PKU): How Is the Disease Inherited?
What are the symptoms and how is Phenylketonuria inherited? Learn about this genetic metabolic disorder that causes nervous system and brain damage.

Neurofibromatosis Type 2 - What is NF2
Neurofibromatosis type 2 is one of three types of genetic nervous system disorders that causes tumors to grow around nerves.

Types of Albinism, Symptoms and Diagnosis
Congenital hypopigmentary disorders, known as albinism, result from a defect in the production of pigment (melanin) in the skin, eyes, and hair.

What Is Autoimmune Disorder Myasthenia Gravis?
Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.

Mad Cow Disease in Humans
An overview of mad cow disease (variant Creutzfeldt-Jakob disease) in humans including its symptoms, diagnosis, and treatment.

Batten Disease Symptoms, Diagnosis, and Treatment
Batten disease is a rare degenerative disease affecting children between 5 and 10, destroying vision, motor skills, brain tissue and causes seizures.

CHARGE Syndrome: A Genetic Disorder of Birth Defects
The combined birth defects—Coloboma, Heart defect, Atresia, Retardation, Genital and Ear anomalies—make up CHARGE syndrome, a rare, genetic disorder.

What Is Hypopituitarism (Dwarfism)?
Information about growth hormone deficiency (hypopituitary dwarfism), its symptoms, diagnosis, and treatment.

What is Hurler Syndrome? The MPS I Disease Explained
Hurler syndrome—MPS—I is a progressive genetic disease that can be potentially fatal. Learn more about the symptoms, diagnosis and treatment options.

Interstitial Cystitis - IC - What Is Interstitial Cystitis
Information about interstitial cystitis (IC), also known as painful bladder syndrome (PBS), including symptoms, diagnosis and treatments.

Kennedy Disease—Know the Symptoms and Treatment Options
Kennedy disease (spinal bulbar muscular atrophy) is an inherited neurological disorder with ALS like symptoms—Learn more about SBMA and its treatment.

Opsoclonus-Myoclonus Syndrome Symptoms and Treatment
Opsoclonus-myoclonus syndrome is a rare disorder that affects motor skills, behavior, language and eye movements. It often occurs in young children.

Orphan Drug Act: Helping Patients with Rare Diseases
The Orphan Drug Act was introduced by the United States and EU governments to support research and development for medications to treat rare diseases.

The Children of Chernobyl and the Health Issues They Face
The children affected by the Chernobyl meltdown are known as the Children of Chernobyl. Here is a recap of the event and the health issues they face.

How Cloning May One Day Cure Diseases
Cloning human cells has the potential to treat a number of human diseases. Learn more about the science and controversies behind cloning.

CT Scan—What Is It and How to Prepare for the Procedure
Scheduled for a CT (computed tomography) scan? Learn more about what the scan is used for, what the procedure is like, and how to best prepare for it.

Hemolysis: How Hemolytic Anemias Attack Red Blood Cells
The breakdown of red blood cells can be caused by many types of Hemolytic Anemia. Learn about the many types of conditions that can trigger hemolysis.

Polycythemia Vera - Bone Marrow Disorder
An overview of polycythemia vera, a rare bone marrow disease involving an overproduction of red blood cells.

Prader-Willi Syndrome
Prader-Willi syndrome is caused by a genetic disorder of chromosome 15. Although rare, Prader-Willi syndrome is the most common genetic cause of obesity.

What Is Prosopagnosia Face Blindness?
Prosopagnosia is defined by an inability to recognize faces. Learn more about the symptoms and treatment for the disease known as face blindness.

What Is Toxic Epidermal Necrolysis (TEN)?
Toxic epidermal necrolysis (TEN) is a rare and life-threatening side effect of some medications. Learn more about the symptoms of TEN.

What is Kikuchi Disease?
Kikuchi disease is a rare, not life threatening disease that affects the lymph nodes. Find out who is at risk, plus the symptoms, diagnosis and treatments.

Rare Diseases: Laurence-Moon-Bardet-Biedl Syndrome
Biedl-Bartet Syndrome and Laurence-Moon Syndrome were once considered the same disorder, but have been split into two distinct genetic disorders.

Sarcoidosis Symptoms, Treatment and Overview
Learn about symptoms, diagnosis and treatment for sarcoidosis, a disease that produces lumps of cells known as granulomas in bodily tissues.

What Are the Different Types of Scleroderma?
Information about the different types of scleroderma, including symptoms, diagnosis, and treatment. Scleroderma is most likely an autoimmune disease.

Spina Bifida Symptoms, Diagnosis and Treatment
Spina Bifida is a disabling birth defect where the spinal column does not close all the way, caused by genetic or environmental factors.

What is Reflex Sympathetic Dystrophy (RSD)?
Information about RSD (reflex sympathetic dystrophy), also known as CRPS, including causes, symptoms, diagnosis, and treatment.

What Happens During an EEG?
Having electrodes on your head, known as an electroencephalogram or EEG, can tell doctors a lot about your brain. Learn more about what an EEG does.

What Is a Comprehensive Metabolic Panel?
A comprehensive metabolic panel (CMP), is a set of 14 blood tests done that gives information on a person's health.

Information on Vogt-Koyanagi-Harada Syndrome
Learn about symptoms, diagnosis and treatment for Vogt-Koyanagi-Harada syndrome, a rare disease affecting cells that contain the pigment melanin.

Spread of the Bubonic Plague—How It Affects Us Today
The Bubonic plague is a potentially fatal infection that ravaged 14th Century Europe. It still exists today, learn about the symptoms and treatments.

What is Zellweger Syndrome?
Zellweger syndrome is a rare, inherited metabolic disorder with severe physical affects. Learn about symptoms, diagnosis and treatment.

What is Wolf-Hirschhorn Syndrome?
An overview of Wolf-Hirschhorn syndrome, a genetic error of chromosome 4, including symptoms, diagnosis, and treatment.

Ciba-Geigy and the Toms River Cancer Cluster Settlement
Learn more about the background on how Industrial Pollution by Ciba-Geigy Corporation in Toms River was linked to increased childhood cancer clusters.

Idiopathic Thrombocytopenic Purpura: What Is ITP?
What is ITP (Idiopathic thrombocytopenic purpura) and is it hereditary? Learn more about this autoimmune disease that attacks blood platelet counts.

Chromosome 16 Disorders - Duplications and Deletions
Learn about some of the changes in the structure or number of copies of chromosome 16, and how these can cause problems with health and development.

Understanding How Bone Marrow Transplants Work
A bone marrow, or stem cell, transplant is a procedure where stem cells are removed from the body, filtered and then transplanted.

Understanding Essential Thrombocythemia
Essential thrombocythemia, a myeloproliferative disorder, causes excess platelet production along with abnormal blood clotting or bleeding.

Information About Sickle-Cell Anemia
Information about sickle cell anemia including its symptoms, diagnosis, and treatment. Also, read about lab research for new drugs and procedures.

Adrenoleukodystrophy or ALD and Lorenzo's Oil
Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.

Types of Dwarfism: Most Common Kind
Little people are persons with an adult height of 4 feet 10 inches or shorter. Read more about the types of dwarfism along with the genetic causes.

Seckel Syndrome Symptoms, Diagnosis, and Treatment
Learn about Seckel syndrome, a form of primordial dwarfism, including symptoms, diagnosis, and treatment.

Multiple Myeloma - Blood Cell Cancer
Learn about symptoms and treatment for multiple myeloma, a cancer of the blood plasma cells that is most common among people over the age of 65.

Information About Coarctation of the Aorta
Information about coarctation of the aorta, a heart defect present at birth, including symptoms, diagnosis, and treatment.

Information About Genetic Testing
Information about what genetic testing is, the different kinds of genetic tests, why people get genetic tests, and where to get them.

Duchenne Muscular Dystrophy - DMD
Information about Duchenne muscular dystrophy (DMD) including who gets it, the symptoms, diagnosis, and treatments.

What is Neurofibromatosis Type 1?
Information about neurofibromatosis type 1 (NF1), including symptoms, diagnosis, and treatments.

What Is Hydrolethalus Syndrome?
Information about hydrolethalus syndrome, a genetic disorder, including its symptoms and diagnosis.

Lymphangiomatosis Information
Lymphangiomatosis is when tumors grow in the lymphatic system. Learn more about the symptoms and treatment of this rare disease.

All About Neurofibromatosis
Information about the different types of neurofibromatosis (NF), including symptoms, diagnosis, and treatments.

Paroxysmal Nocturnal Hemoglobinuria (PNH)
Information about paroxysmal nocturnal hemoglobinuria (PNH) including its symptoms, diagnosis, treatment, and ongoing research.

Pulmonary Hypertension Types, Symptoms, and Treatment
Information about pulmonary hypertension, including the different types, symptoms, diagnosis, and treatment.

Information About Kallmann Syndrome
Information about the rare inherited disorder Kallmann syndrome, including its symptoms, diagnosis and treatment options.

Amyotrophic Lateral Sclerosis (ALS) Disorder Info
Article describes ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig's disease, its symptoms, diagnosis, and treatment.

Waardenburg Syndrome - Symptoms, Types, Treatment
An overview of Waardenburg syndrome, a rare genetic disease causing features like albinism and dystopia canthorum.

Rare Diseases - All About Rare Diseases
Learn how a disease qualifies as rare, how to get information, and how to find support if you suffer from a rare disease.

Anemia Definition and Symptoms
Information about what anemia is, what symptoms it causes, and what causes this condition in blood cells.

Granuloma - Symptoms and Other Conditions
The body produces granulomas as a way to block out irritants it is unable to ward off. Learn the definition of granuloma and how it relates to certain diseases.

Information About Osteogenesis Imperfecta
Information about osteogenesis imperfecta, including its symptoms, diagnosis, and treatment.

What is Arthrogryposis Multiplex Congenita (AMC)?
Arthrogryposis Multiplex Congenita is a birth defect that causes joint contractures. Learn about the causes, symptoms, treatment and prognosis of AMC.

What is Aplastic Anemia?
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.

What Are Porphyria and Gunther's Disease?
Porphyria includes Gunther's disease and, at least, seven other forms. Learn more about the different types of porphyria and their symptoms.

Antiphospholipid Syndrome
An overview of the autoimmune disorder, antiphopholipid syndrome, including its symptoms, diagnosis, and treatment.

What Is Congenital Central Hypoventilation Syndrome?
Congenital central hypoventilation syndrome is a breathing disorder that begins within the first year of life. Learn more about the symptoms of CCHS.

How Genetic Disorders Are Inherited
Information about the different ways that genetic disorders are inherited, including autosomal dominant, autosomal recessive, and more.

What Is Acquired Ichthyosis?
Acquired ichthyosis is a skin disorder that is usually linked to other conditions like cancer. Learn more about this ichthyosis vulgaris.

Gastroschisis Symptoms and Diagnosis
Information about causes and treatments for gastroschisis, a birth defect that causes a hole in the abdomen through which abdominal contents protrude.

Congenital Defect Prune Belly Syndrome in Babies
Prune Belly syndrome (also known as Eagle-Barrett) is a severe physical congenital condition—Learn more about its symptoms, diagnosis, and treatments.

Glioma and Brain Cancer
An overview of glioma, a type of brain cancer, its symptoms, diagnosis, treatment, and areas of research regarding treatment.

Lissencephaly - Symptoms, Diagnosis and Treatment
In lissencephaly, the brain surface is almost completely smooth. The physical structure of the brain did not develop correctly during pregnancy.

How PERRLA Is Used to Check Nervous System Functioning
When examining a patient's eyes, PERRLA is an acronym used to describe how doctors check the functioning of your nervous system.

What Is Cornelia de Lange Syndrome?
Children with Cornelia de Lange syndrome tend to have very distinctive facial features. Learn more about the symptoms of CDLS.

Cystinosis
Article describes cystinosis, its different forms, its symptoms, diagnosis, and treatments.

Diagnosing and Treating Dermatomyositis
Learn about dermatomyositis, an inflammatory disease primarily affecting the skin and muscles, along with its symptoms, diagnosis, and treatment.

Canavan Disease Information
Information about the genetic disorder Canavan disease, a type of leukodystrophy that affects the brain tissue.

Acromegaly - What is Acromegaly?
Information about acromegaly, including its symptoms, diagnosis, and treatment.

What Is Aplasia Cutis Congenita?
Children born with aplasia cutis congenita are born missing a patch of skin. Learn more about the signs of this rare skin condition in infants.

Angelman Syndrome - Genetic Disorder
Understanding Angelman syndrome, a genetic disorder that causes a characteristic appearance of being happy all of the time.

What Are Genes, DNA, and Chromosomes?
Information about what genes, DNA, chromosomes, proteins, mutations, and the human genome are, and how they relate to each other.

Cat Eye Syndrome - Genetic Birth Defect
Cat eye syndrome, named after how it affects the appearance of the eyes, is caused by a genetic defect in chromosome 22. Learn about the syndrome here.

Munchausen Syndrome By Proxy as Child Abuse
Munchausen syndrome by proxy, referred to as a factitious disorder, can take the form of child abuse when parents make up illnesses for their child.

Hematologist-Oncologist: Why Your Doc Has Referred You
Don't know the definition of hematologist-oncologist and why your doctor has sent you to see one? Learn more about the blood and cancer specialists.

What Are Cancers of the Blood Cells?
Information about different types of blood cell cancers, including symptoms, diagnosis, and treatments.

Xeroderma Pigmentosum Disease Symptoms and Treatment
Information about xeroderma pigmentosum, an inherited disease that causes sun sensitivity, including its symptoms, diagnosis, and treatment.

6 Reasons Why Getting the Right Diagnosis Is Difficult
From being a rare disease to unusual symptoms, here are 6 reasons why getting a correct diagnosis can be a difficult, long and frustrating process.

What Is Lorenzo's Oil?
Lorenzo's Oil is a treatment for adrenoleukodystrophy (ALD), a degenerative and often fatal disease. Learn more about ALD and Lorenzo's Oil.

What Happens During a CT Scan?
Description of what a CT scan is and what happens during the procedure.

What Happens During An Echocardiogram?
Information about what happens during an echocardiogram.

What Is Werner Syndrome?
Werner syndrome is a rare, premature aging disease, which makes people look decades older than they are. Learn more about Werner syndrome.

What Causes Infantile Spasms? (West Syndrome)
Almost any condition that can cause brain damage can cause West syndrome. The two most common causes are tuberous sclerosis and lack of oxygen during birth.

Waldenstrom's Macroglobulinemia - WM - Information
Information about Waldenstrom's macroglobulinemia (WM), a white blood cell cancer, including risk factors, symptoms, diagnosis, staging, and treatment.

VACTERL Association and Birth Defects
VACTERL Association birth defects occur together, causing physical abnormalities in the unborn fetus or newborn; immediate treatment is necessary.

Movies About Rare Diseases, Disorders & Disabilities
Film is a powerful art form, and these movies about rare diseases and disorders will change the way you view and discuss such little known conditions.

MMIH Syndrome: A Congenital Defect With Severe Symptoms
Wondering what megacystis microcolon intestinal hypoperistalsis syndrome (MMIH) is? Learn more about this congenital birth defect and symptoms here.

Transposition of the Great Arteries
Information about transposition of the great arteries (TGA), also called transposition of the great vessels, a congenital heart defect.

Michael J. Fox's Biggest Role: Parkinson's Disease
Michael J. Fox created a foundation to raise money for Parkinson's disease research after he was diagnosed with the condition in 1991.

What is Neurodegenerative Disorder MELAS Syndrome?
Understanding MELAS syndrome, a neurodegenerative disorder involving mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke.

What Is Machado-Joseph Disease?
Machado-Joseph disease is a degenerative type of ataxia, which can result in a wide range of muscular symptoms. Learn more about this inherited disease.

Timothy Syndrome - Information About Timothy Syndrome
Information about Timothy syndrome, its symptoms, diagnosis, and treatment.

Who Was Lorenzo Odone?
Information about the life of Lorenzo Odone and Lorenzo's oil.

About Klippel-Trenaunay-Weber Syndrome
Information about Klippel-Trenaunay-Weber syndrome, also called Parkes-Weber syndrome, including its symptoms, diagnosis, and treatment.

Josh Ryan Evans: Life With Achondroplasia
Actor Josh Ryan Evans was known for his short stature. Learn more about the famous actor and his life living with achondroplasia, a form of dwarfism.

Jerry's Kids: Raising Awareness for Muscular Dystrophy
Jerry Lewis spent over four decades raising awareness for muscular dystrophy. Learn more about Jerry's kids and the nine forms of muscular dystrophy.

Jackson-Weiss Syndrome - Information
Information about Jackson-Weiss syndrome, including symptoms, diagnosis and treatment.

Information About Idiopathic Myelofibrosis
Information about idiopathic myelofibrosis, also known as agnogenic myeloid metaplasia, including symptoms, diagnosis and treatment.

What Is Hunter Syndrome?
Hunter syndrome also known as MPS II is a rare disease that can range from mild to severe. Learn more about the condition and how it is diagnosed.

Human Genetics - What is Human Genetics
Information about human genetics, including what genes and chromosomes are, how diseases are inherited, genetic testing, newborn genetic testing, gene therapy, and genetic counseling.

Sturge-Weber Syndrome - Information About Sturge-Weber Syndrome
Information about Sturge-Weber syndrome, including its symptoms, diagnosis, and treatment.

Stiff Person Syndrome (SPS): Symptoms and Treatment
Information about stiff person syndrome and its symptoms, diagnosis, and treatment. Stiff person syndrome is a rare neurological disorder.

Schwartz-Jampel Syndrome: Symptoms, Causes, Treatment
Schwartz-Jampel syndrome is a rare genetic disorder that affects the muscles, among other symptoms. Learn more about diagnosis and treatment for SJS.

Scleredema and Hardening of the Skin
Article describes scleredema, its symptoms, diagnosis, and treatment.

Russell-Silver Syndrome - Failure to Grow
An overview of Russell-Silver syndrome, a chromosomal disorder, including its symptoms, diagnosis, and treatment.

Hidradenitis Suppurativa: Symptoms and Treatment
Hidradenitis suppurativa is a a non-contagious skin disease that causes painful skin lesions and scarring. Learn about its symptoms and treatment.

What Is Hemosiderosis?
Hemosiderosis is a lung disorder that causes bleeding in the lungs. Learn more about the symptoms, diagnosis, and treatment of hemosiderosis.

Reye's Syndrome - Description
Information about Reye's syndrome, its symptoms, diagnosis, treatment, and prevention.

Guillain-Barre Syndrome
Article describes Guillain-Barre syndrome, its symptoms, diagnosis, and treatment.

Primordial Dwarfism - What You Need to Know
Primordial dwarfism is a group of disorders in which growth is proportional but severely delayed, beginning in the womb.

Progressive Supranuclear Palsy (PSP)—Dudley Moore Death
Progressive Supranuclear Palsy (PSP) was actor Dudley Moore's Cause of Death—Learn about this degenerative brain disorder, its symptoms and treatment.

Abraham Lincoln and Marfan Syndrome
Some speculate that U.S. President Abraham Lincoln had Marfan syndrome, a mostly inherited disorder affecting connective tissue throughout the body.

What Is Pompe Disease (GSD-II)?
Pompe disease is one of 49 lysosomal storage disorders. Learn more about the symptoms and treatments for the two types of Pompe disease.

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Pictures of "Black Death" Bubonic Plague
Pictures of what bubonic plague (the

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Patau Syndrome (Trisomy 13) Information
An overview of Patau syndrome, or Trisomy 13, including its symptoms, diagnosis, and treatment.

What Is Osteopetrosis?
Osteopetrosis is a rare bone disease that causes bones to overgrow and break. Learn more about the symptoms and treatments for this rare condition.

An Overview of Budd-Chiari Syndrome
Budd-Chiari syndrome, its symptoms, diagnosis, and treatment.

Norrie Disease - What is Norrie Disease
Information about Norrie disease, including its symptoms, diagnosis, and treatment.

Leigh's Disease - Information about Leigh's Disease
Information about Leigh's disease, an inherited metabolic disorder, including symptoms, diagnosis, and treatment.

Costello Syndrome
Article describes Costello syndrome, its symptoms, diagnosis, and treatment.

Hay-Wells Syndrome - Information About Hay-Wells Syndrome
Hay-Wells syndrome is a form of ectodermal dysplasia, a group of over 100 inherited disorders that cause hair, teeth, nails, and glands to develop abnormally. Cleft palate is among the symptoms of Hay-Wells syndrome. Learn more about Hay-Wells syndrome symptoms, diagnosis, and treatment.

Jarcho-Levin Syndrome: A Congenital Defect of the Bones
Jarcho-Levin syndrome is a genetic congenital defect which causes malformed bones in the spine and ribs. Learn other symptoms and treatment for SCDO.

What Is Progeria?
Progeria may refer to Hutchinson-Gilford progeria or Werner Syndrome. Learn more about the symptoms of each of these rare progeria conditions.

Newborn Screening for Genetic and Metabolic Disorders
Information about screening newborn infants for genetic and metabolic disorders, including how it's done and what disorders are screened for.

Myelodysplastic Syndrome (MDS) Symptoms and Overview
Information about myelodysplastic sydrome (MDS), including symptoms, diagnosis, and treatment.

Feelings When Finding Out Your Diagnosis
You may have a lot of different feelings when finding out your diagnosis, especially if it's a rare disease.

What Is Hamburger Disease?
Hemolytic uremic syndrome, also known as hamburger disease, is usually caused by eating bacteria-contaminated food. Learn more about the condition.

Joubert Syndrome Information
Information about the genetic birth defect Joubert syndrome, its symptoms, diagnosis, and treatment.

Joseph Merrick 'the Elephant Man' Bones Tell the Story
We look at the medical findings in the case of Joseph Merrick, known as The Elephant Man, whose bones tell the full story a 100 years after his death.

Lorenzo's Oil: A Treatment for Childhood ALD
Learn about the story of Lorenzo Odene, the boy whose family developed Lorenzo's oil, one of the treatments used for children with ALD.

- By Category
An index of categories in the

Herpes Simplex Encephalitis
Articles and information about herpes simplex encephalitis (brain inflammation caused by herpes infection).

Viral Hemorrhagic Fevers
Links to information and resources for rare viruses - Ebola, Marburg, Lassa, and Crimean-Congo - that can cause hemorrhaging and death.

Legislation About Rare Diseases and Orphan Drugs
Information about proposed or enacted legislation pertaining to rare diseases or orphan drugs.

Arm Bubonic Plague Infection - Picture Of Bubonic Plague
Picture of the arm of a person with bubonic plague, showing bleeding under the skin. Page 19.

Arm Bubonic Plague Infection - Picture Of Bubonic Plague
A person with bubonic plague has a swollen lymph node, called a

Bacteria Bubonic Plague Infection - Picture Of Bubonic Plague
Picture of bubonic plague bacteria from an infected lymph node, or bubo. Page 4.

Bacteria Bubonic Plague Infection - Picture Of Bubonic Plague
Photomicrograph of a blood smear containing Yersinia pestis plague bacteria. Page 8.

Boy with Bubonic Plague Infection - Picture Of Bubonic Plague
A boy with bubonic plague has a swollen lymph node, called

Bubonic Plague Infection - Picture Of Bubonic Plague
Picture of a cat finding shelter in a burrow. Page 13.

Bubonic Plague Infection - Picture Of Bubonic Plague
Cats are highly susceptible to plague infection and frequently die of the disease. Page 12.

Bubonic Plague Infection - Picture Of Bubonic Plague
Taking a blood sample from a dog to test for plague infection. Page 14.

Flea Powder Bubonic Plague Infection - Picture Of Bubonic Plague
Using flea powder to kill fleas on pets helps control the spread of bubonic plague. Page 9.

Foot Gangrene Bubonic Plague Infection - Picture Of Bubonic Plague
Foot gangrene caused by bubonic plague. Page 15.

Hand Bubonic Plague Infection - Picture Of Bubonic Plague
Picture of gangrene in the hand caused by bubonic plague. Page 11.

Foot Gangrene Bubonic Plague Infection - Picture Of Bubonic Plague
The feet of a person, who is developing gangrene, infected with bubonic plague. Page 10.

Pictures of "Black Death" Bubonic Plague
Pictures of what bubonic plague (the

Montana Flea Bubonic Plague Infection - Picture Of Bubonic Plague
An adult male Oropsylla Montana flea, a carrier of bubonic plague bacteria. Page 7.

Neck Bubonic Plague Infection - Picture Of Bubonic Plague
Picture of the neck of a person with bubonic plague, showing a swollen lymph gland, called a

Norway Rat Bubonic Plague Infection - Picture Of Bubonic Plague
The Norway rat, also called

Bubonic Plague Infection - Picture Of Bubonic Plague
Picture of permethrin-treated cotton. The cotton is collected by rats and brought back to their nests. Page 16.

Bubonic Plague Infection - Picture Of Bubonic Plague
A man setting traps for rats during a plague study. Page 18.

Sewer Rat Bubonic Plague Infection - Picture Of Bubonic Plague
A Norway rat, also known as brown rat or sewer rat, can carry bubonic plague. Page 3.

Bubonic Plague Infection - Picture Of Bubonic Plague
A weasel can have fleas that carry bubonic plague bacteria. Page 17.

Cystinuria
Article describes cystinuria, its symptoms, diagnosis, and treatment.

Kasabach-Merritt Syndrome
Article describes Kasabach-Merritt syndrome, its symptoms, diagnosis, and treatment.

Blog


Blogs About Rare Diseases and Rare Disorders
Links to Internet blogs about rare diseases and disorders.

Living with Lupus - page 2 of 2
Links to guidance on how to manage the stress of lupus and cope with the disease

Digestive Disorders
Links to information and resources for rare diseases/disorders of the digestive system.

Multiple System Disorders
Links to information and resources for diseases and disorders that affect more than one body system.

Respiratory Disorders
Links to articles, information, and resources for rare disorders of the respiratory system.

Research About Rare Diseases
Information about research into rare diseases, including summaries of research studies, genetics, clinical trials, and orphan drugs.

Immune Deficiency Disorders
Articles and information about immune disorders.

Arm Bubonic Plague Infection - Picture Of Bubonic Plague
This person with bubonic plague has a swollen lymph node, called a "bubo," in the armpit.

Leukemia
Leukemias are cancer of the white blood cells, classified according to what type of cells are involved. Find links here to information and resources.

Lupus Home Pages
Links to lupus home pages.

Rare Diseases C - D
Alphabetical listing of information and support groups for rare diseases and disorders.

Rare Diseases E - H
Alphabetical listing of information and support groups for rare diseases and disorders.

Rare Diseases I - L
Alphabetical listing of information and support groups for rare diseases and disorders.

Rare Diseases M - N
Alphabetical listing of information and support groups for rare diseases and disorders.

Rare Diseases O - R
Alphabetical listing of information and support groups for rare diseases and disorders.

Rare Diseases S - V
Alphabetical listing of information and support groups for rare diseases and disorders.

Rare Diseases W - Z
Alphabetical listing of information and support groups for rare diseases and disorders.

Sickle Cell Anemia
Articles and information about sickle cell anemia, a blood disorder.

Finding Support
Information about dealing with a rare disease, connecting with others who have rare diseases, finding support groups, and resources like books and websites.