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Rare Diseases: Most Popular Articles

These articles are the most popular over the last month.
What Does PERRLA Mean in Eye Exams?
What PERRLA means in medicine and when it's used.
Pictures of Bubonic Plague
During the Middle Ages, bubonic plague , known as the "Black Death," killed thousands of people. Bubonic
Understanding the Basics of Genetic Disorders
Information about what genes, DNA, chromosomes, proteins, mutations, and the human genome are, and how they relate to each other.
What You Should Know About the Estimated 200...
Information about how many types of dwarfism there are, and the main types, with links to more information.
6 Things to Know About a Bone Marrow Transplant
A bone marrow transplant is a procedure to remove, filter, and replace stem cells in the same person or given to another person.
What You Should Know About Blood Cell Cancer
Information about multiple myeloma (blood cell cancer), its symptoms, diagnosis, and treatment.
What Are the Symptoms of Sarcoidosis?
Information about sarcoidosis, including its symptoms, diagnosis and treatment.
The Deadly Effects of Mad Cow Disease in Humans
An overview of mad cow disease (variant Creutzfeldt-Jakob disease) in humans including its symptoms, diagnosis, and treatment.
Why the Elephant Man Stumped Physicians for 100...
Article looks at the medical findings in the case of Joseph Merrick, known as The Elephant Man.
Did You Know the Bubonic Plague Still Exists?
Information about bubonic plague, including its symptoms, how it's spread, diagnosis and treatment.
What You Should Know About the Rain Man's...
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What Researchers Have Learned about ALD, the...
Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
What Is A CT Scan?
Description of what a CT (computed tomography) scan is, what it is used for, and how it is done.
What Happens During a CT Scan?
Description of what a CT scan is and what happens during the procedure.
Myasthenia Gravis
Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.
When Does Reflex Sympathetic Dystrophy Occur?...
Information about RSD (reflex sympathetic dystrophy), also known as CRPS, including symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Neck Bubo
After the incubation period of 2 to 6 days, symptoms of bubonic plague appear, including severe malaise,
An Interesting Look at President Lincoln's Health
The debate about whether U.S. President Abraham Lincoln had Marfan syndrome.
Overview of Glioma, a Type of Brain Cancer
An overview of glioma, a type of brain cancer, its symptoms, diagnosis, treatment, and areas of research regarding treatment.
Scleroderma
Information about the different types of scleroderma, including symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Boy with Plague
After the incubation period of 2 to 6 days, symptoms of bubonic plague appear, including severe malaise,
Hematologist-Oncologist
Definition of hematologist-oncologist
What Happens During An Echocardiogram?
Information about what happens during an echocardiogram.
What is Celiac Disease?
Information about celiac disease including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Arm Bubo
After the incubation period of 2 to 6 days, symptoms of bubonic plague appear, including severe malaise,
What Is a Comprehensive Metabolic Panel?
Describes what a metabolic workup is and how it might be used in diagnosis of an illness or disease.
Bubonic Plague Pictures: Hand Gangrene
Picture of gangrene in the hand caused by bubonic plague. Page 11.
What is Cystic Fibrosis
An overview of cystic fibrosis, including its symptoms, diagnosis, treatment and research on the genetic disease.
Bubonic Plague Pictures: Developing Foot Gangrene
The feet of a person, who is developing gangrene, infected with bubonic plague. Page 10.
Chromosome 16 Disorders
Article describes some of the disorders of chromosome 16, such as trisomy 16, and lists their symptoms.
Blood Cell Cancers
Information about different types of blood cell cancers, including symptoms, diagnosis and treatments.
How Is Bubonic Plague Spread?
Information and pictures about how bubonic plague is spread
Guillain-Barre Syndrome
Article describes Guillain-Barre syndrome, its symptoms, diagnosis, and treatment.
Spina Bifida: Types, Symptoms and Treatment
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
Josh Ryan Evans and Achondroplasia
Article discusses actor Josh Ryan Evans and achondroplasia, including the symptoms, diagnosis, and treatment of the disorder.
The Effects of Having an Extra Copy of...
An overview of Patau syndrome, or Trisomy 13, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Foot Gangrene
Foot gangrene caused by bubonic plague. Page 15.
Amyotrophic Lateral Sclerosis (ALS)
Article describes ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig's disease, its symptoms, diagnosis, and treatment.
VACTERL Association
Information about VACTERL association (a group of birth defects that occur together), including symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Norway Rat
The Norway rat is very common in cities as well as rural areas. It usually lives close to humans and
Hypopituitary Dwarfism
Information about growth hormone deficiency (hypopituitary dwarfism), its symptoms, diagnosis, and treatment.
Opsoclonus-Myoclonus Syndrome
Article describes opsoclonus-myoclonus syndrome, its symptoms, diagnosis, and treatment.
Gitelman Syndrome
Information about Gitelman syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Sewer Rat
A Norway rat, also known as brown rat or sewer rat, can carry bubonic plague. Page 3.
Primordial Dwarfism
Information about primordial dwarfism, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Cat
Cats are highly susceptible to plague infection and frequently die of the disease. Page 12.
Idiopathic Thrombocytopenic Purpura (ITP)
Information about idiopathic thrombocytopenic purpura, also called immune thromobocytopenic purpura, including the types, symptoms, diagnosis, and treatment.
Lissencephaly
Information about lissencephaly, including its symptoms, diagnosis and treatment.
What was the movie "Lorenzo's Oil" about?
Information about the movie. Rare Diseases.
Laurence-Moon-Bardet-Biedl Syndrome
(LMBBS) is an inherited genetic condition. Learn about its symptoms (visual impairment, obesity, extra fingers, etc), diagnosis, and treatment.
Bubonic Plague Pictures: Plague Bacteria
Picture of bubonic plague bacteria from an infected lymph node, or bubo. Page 4.
POEMS Syndrome
Information about POEMS syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Flea
An adult male Oropsylla Montana flea, a carrier of bubonic plague bacteria. Page 7.
Waldenstrom’s Macroglobulinemia
Information about Waldenstrom's macroglobulinemia (WM), a white blood cell cancer, including risk factors, symptoms, diagnosis, staging, and treatment.
Myelodysplastic Syndrome
Information about myelodysplastic sydrome (MDS), including symptoms, diagnosis, and treatment.
Hidradenitis Suppurativa
Article describes hidradenitis suppurativa, its symptoms, and treatment.
Newborn Screening for Genetic and Metabolic...
Information about screening newborn infants for genetic and metabolic disorders, including how it's done and what disorders are screened for.
Bubonic Plague Pictures: Cat in a Burrow
Picture of a cat finding shelter in a burrow. Page 13.
Hemolysis
Definition of hemolysis. Rare Diseases.
Bubonic Plague Pictures: Flea Powder
Using flea powder to kill fleas on pets helps control the spread of bubonic plague. Page 9.
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.
What Is a DNA Test?
Information about what a DNA test is, how it's done, and why it is done.
Sickle Cell Anemia
Information about sickle cell anemia including its symptoms, diagnosis, and treatment.
Gastroschisis
Information about gastroschisis, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Dog Blood Test
Taking a blood sample from a dog to test for plague infection. Page 14.
Batten Disease
Information about juvenile neuronal ceroid lipofuscinosis, also called Batten disease, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Arm Bleeding
Picture of the arm of a person with bubonic plague, showing bleeding under the skin. Page 19.
Bubonic Plague Pictures: Flea Killer
Picture of permethrin-treated cotton. The cotton is collected by rats and brought back to their nests. Page 16.
Must-Know Facts About Leprosy
Article describes leprosy, its symptoms, diagnosis, and treatment.
Munchausen Syndrome: Know The Signs of This...
Article describes Munchausen syndrome by proxy, its diagnosis, effects, and treatment.
Bubonic Plague Pictures: Weasel
A weasel can have fleas that carry bubonic plague bacteria. Page 17.
Why Is Getting A Rare Disease Diagnosis So...
Here are reasons why getting a correct diagnosis for a rare disease can be a difficult, long and frustrating process.
Prader-Willi Syndrome
Article describes Prader-Willi syndrome, its symptoms, diagnosis, and treatment.
Stiff Person Syndrome
Information about stiff person syndrome, its symptoms, diagnosis, and treatment.
Angelman Syndrome
Article describes Angelman syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Setting Rat Traps
A man setting traps for rats during a plague study. Page 18.
Einstein, Newton, and Asperger Syndrome
Article describes Asperger syndrome, and the debate about whether Albert Einstein and Isaac Newton had it.
Glioma Treatment Research
Article describes glioma, a type of brain cancer, its symptoms, diagnosis, treatment, and areas of research regarding treatment. Page 2.
Seckel Syndrome
Information about Seckel syndrome, a form of primordial dwarfism, including symptoms, diagnosis, and treatment.
Granuloma
Definition of granuloma. Rare Diseases.
Dermatomyositis
Article describes dermatomyositis, its symptoms, diagnosis, and treatment.
Trisomy 18 - Edwards Syndrome
An overview of Trisomy 18, also called Edwards syndrome, including its symptoms, diagnosis, and treatment.
What Is the Cat Eye Syndrome Genetic Birth...
Information about the genetic birth defect called cat eye syndrome, including its symptoms, diagnosis, and treatment.
Turner Syndrome
Article describes Turner syndrome, its diagnosis, and treatment.
Kawasaki Syndrome
An overview of Kawasaki syndrome, including its symptoms, diagnosis, and treatment.
Progressive Supranuclear Palsy
Article describes progressive supranuclear palsy, its symptoms, diagnosis, and treatment.
Mycosis Fungoides
An overview of mycosis fungoides, a type of cutaneous T-cell lymphoma, including its symptoms, diagnosis, and treatment.
Essential Thrombocythemia
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
What Is Genetic Testing?
Information about what genetic testing is, the different kinds of genetic tests, why people get genetic tests and where to get them.
Huntington Disease
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
Polycythemia Vera
An overview of the rare disease, polycythemia vera, including its symptoms, diagnosis, and treatment.
Your Guide to Understanding Albinism
Article describes the types of albinism which occur most often, their symptoms, diagnosis, and treatment.
Addison's Disease
Article describes Addison's disease, its diagnosis, and treatment.
Antiphospholipid Syndrome
An overview of the autoimmune disorder, antiphopholipid syndrome, including its symptoms, diagnosis, and treatment.
Marfan Syndrome
Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.
Hunter Syndrome
Article describes Hunter syndrome (mucopolysaccharidosis II), its symptoms, diagnosis, and treatment.
Hurler Syndrome (MPS I)
Information about Hurler syndrome (MPS I), including its symptoms, diagnosis, and treatment.
Hamburger Disease (Hemolytic Uremic Syndrome)
Information about hemolytic uremic syndrome, also known as hamburger disease, its symptoms, diagnosis, and treatment.
What Is an Orphan Drug?
Article describes what an orphan drug is, and how the United States and European Union governments support orphan drug research and development.
Ehlers-Danlos Syndrome
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
Carpenter Syndrome
Information about Carpenter syndrome, a syndrome of genetic birth defects, including its 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.
Aplastic Anemia
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.
What Is Christmas Disease?
Article describes hemophilia, its history and discovery, hemophilia A (classic hemophilia) and hemophilia B (Christmas disease), and their treatment.
Fitz-Hugh-Curtis Syndrome
Article describes Fitz-Hugh-Curtis syndrome, its symptoms, diagnosis, and treatment.
Lorenzo Odone
Information about the life of Lorenzo Odone and Lorenzo's oil.
Reye's Syndrome
Information about Reye's syndrome, its symptoms, diagnosis, treatment, and prevention.
Prune Belly (Eagle-Barrett) Syndrome
An overview of Prune Belly syndrome (also known as Eagle-Barrett) including its symptoms, diagnosis, and treatments.
Duchenne Muscular Dystrophy
Information about Duchenne muscular dystrophy (DMD) including who gets it, the symptoms, diagnosis, and treatments.
Anemia
Information about what anemia is, what symptoms it causes, and what causes it.
Russell-Silver Syndrome
An overview of Russell-Silver syndrome, including its symptoms, diagnosis, and treatment.
How Genetic Disorders Are Inherited
Information about the different ways that genetic disorders are inherited, including autosomal dominant, autosomal recessive, and more.
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.
Rare Diseases: Basic Information
Rare diseases basic information and FAQs.
Cutaneous T-Cell Lymphoma
An overview of the types of cutaneous T-cell lyphomas (CTCL), their symptoms, diagnosis, and treatment, including orphan drug treatments.
Pompe Disease
An overview of the inherited condition, Pompe disease (glycogen storage disease type II), including symptoms, diagnosis, and treatment.
Jerry's Kids - Muscular Dystrophy
Article provides information about the nine types of muscular dystrophy, and links to information and resources.
CHARGE Syndrome
Information about the rare, genetic birth defect known as CHARGE syndrome, its symptoms, diagnosis, and treatments.
Multiple System Atrophy
Article describes multiple system atrophy, its symptoms, diagnosis, and treatment.
Vogt-Koyanagi-Harada Syndrome
Article describes Vogt-Koyanagi-Harada (VKH) syndrome, its symptoms, diagnosis, and treatment.
Wegener Granulomatosis
Article describes Wegener granulomatosis, its symptoms, diagnosis, and treatment.
Kallmann Syndrome
Information about the rare inherited disorder Kallmann syndrome, including its symptoms, diagnosis and treatment options.
Toms River Cancer Cluster Settlement
Feature article on the Toms River, NJ, cancer cluster.
Progeria Syndromes
Article describes the progeria syndromes, their symptoms, and possible causes.
Bartter Syndrome
Information about Bartter syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.
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.
Aortic Dissection
Information about aortic dissection, its causes, diagnosis, and treatment.
Facts About Smallpox Disease
Article describes smallpox disease, including symptoms, the U.S. vaccination program, and issues about its use as a biological weapon.
Mosquito-Borne Encephalitis
Article describes the different types of encephalitis diseases carried by mosquitos, and how to protect yourself against them.
Lambert-Eaton Myasthenic Syndrome
Article describes Lambert-Eaton myasthenic syndrome, its symptoms, diagnosis, and treatment.
Interstitial Cystitis
Information about interstitial cystitis (IC), also known as painful bladder syndrome (PBS), including symptoms, diagnosis and treatments.
Neuronal Ceroid Lipofuscinoses
Article describes the diseases known as neuronal ceroid lipofuscinoses (NCLs), including Batten disease, their symptoms, diagnosis, and treatment.
What happens during an EEG?
Describes what happens during an EEG, and why this type of medical test is done.
Eosinophilic Fasciitis & Eosinophilia-Myalgia...
Article describes eosinophilic fasciitis and eosinophilia-myalgia syndrome, their symptoms, diagnoses, and treatments.
Apert Syndrome
An overview of the genetic condition Apert syndrome, including its symptoms, diagnosis, and treatment.
Polycystic Kidney Disease
Article describes the types of polycystic kidney disease (PKD), their symptoms, diagnosis, and treatment.
Thalassemia: Old Diseases, New Research
Article describes the different types of thalassemia, their symptoms, diagnoses, and treatments.
Neurofibromatosis Type 1 (NF1)
Information about neurofibromatosis type 1 (NF1), including symptoms, diagnosis, and treatments.
Kennedy Disease
Article describes Kennedy disease (also known as spinal bulbar muscular atrophy), its symptoms, diagnosis, and treatment.
Marrow Matches for Minorities Are Harder to Find
Minority individuals can have a difficult time finding a matching marrow donor in the U.S. There is an effort underway to recruit more minority volunteer donors.
Arthrogryposis
Article describes arthrogryposis, its diagnosis, and treatment.
Lennox-Gastaut Syndrome
Information about Lennox-Gastaut syndrome, a severe form of epilepsy, including its symptoms, diagnosis, and treatment.
Minamata Disease
Article describes the industrial pollution in Minamata, Japan, and the resulting effects of mercury poisoning in the people there.
Aplasia Cutis Congenita
Article describes aplasia cutis congenita, its symptoms, diagnosis, and treatment.
Osteogenesis Imperfecta
Information about osteogenesis imperfecta, including its symptoms, diagnosis, and treatment.
Abetalipoproteinemia
Article describes abetalipoproteinemia, its diagnosis, and treatment.
Kartagener Syndrome
Information about Kartagener syndrome (primary ciliary dyskinesia), including its symptoms, diagnosis, and treatment.
Echocardiogram
Information about what an echocardiogram is and why it is done.
MMIH Syndrome
Information about megacystis microcolon intestinal hypoperistalsis syndrome (MMIH), its symptoms, diagnosis, and treatment.
What is Lorenzo's Oil?
Information about what Lorenzo's oil is and what it is used for.

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