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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.
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 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.
What Researchers Have Learned about ALD, the...
Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
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.
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.
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.
What Happens During An Echocardiogram?
Information about what happens during an echocardiogram.
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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Pictures of Bubonic Plague
During the Middle Ages, bubonic plague , known as the "Black Death," killed thousands of people. Bubonic
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.
When Does Reflex Sympathetic Dystrophy Occur?...
Information about RSD (reflex sympathetic dystrophy), also known as CRPS, including symptoms, diagnosis, and treatment.
Myasthenia Gravis
Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.
An Overview of Spina Bifida
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
What You Need to Know About the Bubonic Plague
Information and pictures about how bubonic plague is spread
Understanding Cancers of the Blood Cells
Information about different types of blood cell cancers, including symptoms, diagnosis and treatments.
The Effects of Having an Extra Copy of...
An overview of Patau syndrome, or Trisomy 13, including its symptoms, diagnosis, and treatment.
Sickle Cell Anemia
Information about sickle cell anemia including its symptoms, diagnosis, and treatment.
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.
An Interesting Look at President Lincoln's Health
The debate about whether U.S. President Abraham Lincoln had Marfan syndrome.
Amyotrophic Lateral Sclerosis (ALS)
Article describes ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig's disease, its symptoms, diagnosis, and treatment.
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.
Hematologist-Oncologist
Definition of hematologist-oncologist
Batten Disease
Information about juvenile neuronal ceroid lipofuscinosis, also called Batten disease, including its symptoms, diagnosis, and treatment.
Opsoclonus-Myoclonus Syndrome
Article describes opsoclonus-myoclonus syndrome, its symptoms, diagnosis, and treatment.
Hidradenitis Suppurativa
Article describes hidradenitis suppurativa, its symptoms, and treatment.
Scleroderma
Information about the different types of scleroderma, including symptoms, diagnosis, and treatment.
Laurence-Moon-Bardet-Biedl Syndrome
(LMBBS) is an inherited genetic condition. Learn about its symptoms (visual impairment, obesity, extra fingers, etc), diagnosis, and treatment.
Huntington Disease
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
What Is the Cat Eye Syndrome Genetic Birth...
Information about the genetic birth defect called cat eye syndrome, including its symptoms, diagnosis, and treatment.
Antiphospholipid Syndrome
An overview of the autoimmune disorder, antiphopholipid syndrome, including its symptoms, diagnosis, and treatment.
Myelodysplastic Syndrome
Information about myelodysplastic sydrome (MDS), including symptoms, diagnosis, and treatment.
Primordial Dwarfism
Information about primordial dwarfism, including its symptoms, diagnosis, and treatment.
Hypopituitary Dwarfism
Information about growth hormone deficiency (hypopituitary dwarfism), its symptoms, diagnosis, and treatment.
Idiopathic Thrombocytopenic Purpura (ITP)
Information about idiopathic thrombocytopenic purpura, also called immune thromobocytopenic purpura, including the types, symptoms, diagnosis, and treatment.
Hemolysis
Definition of hemolysis. Rare Diseases.
Must-Know Facts About Leprosy
Article describes leprosy, its symptoms, diagnosis, and treatment.
Einstein, Newton, and Asperger Syndrome
Article describes Asperger syndrome, and the debate about whether Albert Einstein and Isaac Newton had it.
Lissencephaly
Information about lissencephaly, including its symptoms, diagnosis and treatment.
Hurler Syndrome (MPS I)
Information about Hurler syndrome (MPS I), including its symptoms, diagnosis, and treatment.
Kawasaki Syndrome
An overview of Kawasaki syndrome, including its symptoms, diagnosis, and treatment.
VACTERL Association
Information about VACTERL association (a group of birth defects that occur together), including symptoms, diagnosis, and treatment.
Gitelman Syndrome
Information about Gitelman syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.
What is Cystic Fibrosis
An overview of cystic fibrosis, including its symptoms, diagnosis, treatment and research on the genetic disease.
What Is A CT Scan?
Description of what a CT (computed tomography) scan is, what it is used for, and how it is done.
Chromosome 16 Disorders
Article describes some of the disorders of chromosome 16, such as trisomy 16, and lists their symptoms.
What was the movie "Lorenzo's Oil" about?
Information about the movie. Rare Diseases.
Polycythemia Vera
An overview of the rare disease, polycythemia vera, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Foot Gangrene
Foot gangrene caused by bubonic plague. Page 15.
What Is a DNA Test?
Information about what a DNA test is, how it's done, and why it is done.
Guillain-Barre Syndrome
Article describes Guillain-Barre syndrome, its symptoms, diagnosis, and treatment.
Trisomy 18 - Edwards Syndrome
An overview of Trisomy 18, also called Edwards syndrome, including its symptoms, diagnosis, 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.
Waldenstrom’s Macroglobulinemia
Information about Waldenstrom's macroglobulinemia (WM), a white blood cell cancer, including risk factors, symptoms, diagnosis, staging, and treatment.
Progressive Supranuclear Palsy
Article describes progressive supranuclear palsy, its symptoms, diagnosis, and treatment.
MELAS Syndrome
Article describes MELAS syndrome, its symptoms, diagnosis, and treatment.
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.
Basics of 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.
How Genetic Disorders Are Inherited
Information about the different ways that genetic disorders are inherited, including autosomal dominant, autosomal recessive, and more.
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.
Essential Thrombocythemia
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
Aortic Dissection
Information about aortic dissection, its causes, diagnosis, and treatment.
Carpenter Syndrome
Information about Carpenter syndrome, a syndrome of genetic birth defects, including its symptoms, diagnosis, and treatment.
Prader-Willi Syndrome
Article describes Prader-Willi syndrome, its symptoms, diagnosis, and treatment.
All About Rare Diseases
Rare diseases basic information and FAQs.
CHARGE Syndrome
Information about the rare, genetic birth defect known as CHARGE syndrome, its symptoms, diagnosis, and treatments.
Josh Ryan Evans and Achondroplasia
Article discusses actor Josh Ryan Evans and achondroplasia, including the symptoms, diagnosis, and treatment of the disorder.
Mycosis Fungoides
An overview of mycosis fungoides, a type of cutaneous T-cell lymphoma, including its symptoms, diagnosis, and treatment.
Toms River Cancer Cluster Settlement
Feature article on the Toms River, NJ, cancer cluster.
Munchausen Syndrome: Know The Signs of This...
Article describes Munchausen syndrome by proxy, its diagnosis, effects, and treatment.
What is Wolf-Hirschhorn Syndrome
An overview of Wolf-Hirschhorn syndrome, a genetic error of chromosome 4, including symptoms, diagnosis, and treatment.
What is Lorenzo's Oil?
Information about what Lorenzo's oil is and what it is used for.
Bubonic Plague Pictures: Developing Foot Gangrene
The feet of a person, who is developing gangrene, infected with bubonic plague. Page 10.
Reye's Syndrome
Information about Reye's syndrome, its symptoms, diagnosis, treatment, and prevention.
Angelman Syndrome
Article describes Angelman syndrome, its symptoms, diagnosis, and treatment.
Turner Syndrome
Article describes Turner syndrome, its diagnosis, and treatment.
Lorenzo Odone
Information about the life of Lorenzo Odone and Lorenzo's oil.
Toxic Epidermal Necrolysis
Information about toxic epidermal necrolysis (TEN), including causes, symptoms, diagnosis, and treatment.
Gastroschisis
Information about gastroschisis, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Hand Gangrene
Picture of gangrene in the hand caused by bubonic plague. Page 11.
What is Celiac Disease?
Information about celiac disease including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Flea Killer
Picture of permethrin-treated cotton. The cotton is collected by rats and brought back to their nests. Page 16.
Pompe Disease
An overview of the inherited condition, Pompe disease (glycogen storage disease type II), including symptoms, diagnosis, and treatment.
Aplastic Anemia
Article describes aplastic anemia, its symptoms, 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.
Addison's Disease
Article describes Addison's disease, its diagnosis, and treatment.
Positive Options for Reflex Sympathetic...
Publisher's Site Author Elena Juris states in the introduction to her book, Positive Options for Reflex
Phenylketonuria (PKU) Disease
An overview of phenylketonuria (PKU), an inherited metabolic disorder, including symptoms, testing, diagnosis, and treatment.
Ehlers-Danlos Syndrome
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
Prune Belly (Eagle-Barrett) Syndrome
An overview of Prune Belly syndrome (also known as Eagle-Barrett) including its symptoms, diagnosis, and treatments.
Dermatomyositis
Article describes dermatomyositis, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Cat
Cats are highly susceptible to plague infection and frequently die of the disease. Page 12.
Vogt-Koyanagi-Harada Syndrome
Article describes Vogt-Koyanagi-Harada (VKH) syndrome, its symptoms, diagnosis, and treatment.
What Happens During a CT Scan?
Description of what a CT scan is and what happens during the procedure.
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.
What happens during an EEG?
Describes what happens during an EEG, and why this type of medical test is done.
Hamburger Disease (Hemolytic Uremic Syndrome)
Information about hemolytic uremic syndrome, also known as hamburger disease, its symptoms, diagnosis, and treatment.
Why Join A Rare Disease Support Group?
Reasons why joining a rare diseases support group can be helpful.
Duchenne Muscular Dystrophy
Information about Duchenne muscular dystrophy (DMD) including who gets it, the symptoms, diagnosis, and treatments.
Marfan Syndrome
Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.
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.
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.
Arthrogryposis
Article describes arthrogryposis, its diagnosis, and treatment.
Seckel Syndrome
Information about Seckel syndrome, a form of primordial dwarfism, including symptoms, diagnosis, and treatment.
Granuloma
Definition of granuloma. Rare Diseases.
Lennox-Gastaut Syndrome
Information about Lennox-Gastaut syndrome, a severe form of epilepsy, including its symptoms, diagnosis, and treatment.
Glioma Treatment Research
Article describes glioma, a type of brain cancer, its symptoms, diagnosis, treatment, and areas of research regarding treatment. Page 2.
Hunter Syndrome
Article describes Hunter syndrome (mucopolysaccharidosis II), its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Weasel
A weasel can have fleas that carry bubonic plague bacteria. Page 17.
Leber Congenital Amaurosis
Article describes Leber congenital amaurosis, its symptoms, diagnosis, treatment, and areas of research about the disorder.
What Is Christmas Disease?
Article describes hemophilia, its history and discovery, hemophilia A (classic hemophilia) and hemophilia B (Christmas disease), and their treatment.
Your Guide to Understanding Albinism
Article describes the types of albinism which occur most often, their symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Setting Rat Traps
A man setting traps for rats during a plague study. Page 18.
Bubonic Plague Pictures: Flea
An adult male Oropsylla Montana flea, a carrier of bubonic plague bacteria. Page 7.
Xeroderma Pigmentosum
Information about xeroderma pigmentosum, an inherited disease that causes sun sensitivity, 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,
Nipah Virus
Article describes Nipah virus, its symptoms, diagnosis, and treatment, and describes outbreaks of the virus that have occurred.
Eisenmenger Syndrome
Information about Eisenmenger syndrome, including its symptoms, diagnosis, and treatment.
Apert Syndrome
An overview of the genetic condition Apert syndrome, including its 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,
Bubonic Plague Pictures: Plague Bacteria
Photomicrograph of a blood smear containing Yersinia pestis plague bacteria. Page 8.
Russell-Silver Syndrome
An overview of Russell-Silver syndrome, including its symptoms, diagnosis, and treatment.
Stiff Person Syndrome
Information about stiff person syndrome, its symptoms, diagnosis, and treatment.
Idiopathic Myelofibrosis
Information about idiopathic myelofibrosis, also known as agnogenic myeloid metaplasia, including symptoms, diagnosis and treatment.
Multiple System Atrophy
Article describes multiple system atrophy, its symptoms, diagnosis, and treatment.
Cutaneous T-Cell Lymphoma
An overview of the types of cutaneous T-cell lyphomas (CTCL), their symptoms, diagnosis, and treatment, including orphan drug treatments.
Post-Polio Syndrome
Information about post-polio syndrome including symptoms, diagnosis, and treatment.
Ataxia
Definition of ataxia. Rare Diseases.
Thalassemia: Old Diseases, New Research
Article describes the different types of thalassemia, their symptoms, diagnoses, and treatments.
Wegener Granulomatosis
Article describes Wegener granulomatosis, its symptoms, diagnosis, and treatment.
Interstitial Cystitis
Information about interstitial cystitis (IC), also known as painful bladder syndrome (PBS), including symptoms, diagnosis and treatments.
Lambert-Eaton Myasthenic Syndrome
Article describes Lambert-Eaton myasthenic syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Cat in a Burrow
Picture of a cat finding shelter in a burrow. Page 13.
Fitz-Hugh-Curtis Syndrome
Article describes Fitz-Hugh-Curtis syndrome, its symptoms, diagnosis, and treatment.
Kartagener Syndrome
Information about Kartagener syndrome (primary ciliary dyskinesia), including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Flea Powder
Using flea powder to kill fleas on pets helps control the spread of bubonic plague. Page 9.
Bubonic Plague Pictures: Dog Blood Test
Taking a blood sample from a dog to test for plague infection. Page 14.
Paroxysmal Nocturnal Hemoglobinuria
Information about paroxysmal nocturnal hemoglobinuria (PNH) including its symptoms, diagnosis, treatment, and ongoing research.
Seizure
Definition of what a seizure is. Rare Diseases.
Primary Periodic Paralyses
Article describes the types of primary periodic paralyses, their symptoms, diagnoses, and treatment.
Mitochondrial Disease
Article describes mitochondrial disease, its symptoms, and treatments.
Polycystic Kidney Disease
Article describes the types of polycystic kidney disease (PKD), their symptoms, diagnosis, and treatment.
Kallmann Syndrome
Information about the rare inherited disorder Kallmann syndrome, including its symptoms, diagnosis and treatment options.
Congenital Heart Defects (CHD)
Information about congenital heart defects (CHD), meaning heart defects present at birth, including information about what the different kinds of heart defects are.
Wilson's Disease
Information about Wilson's disease, an inherited genetic disorder of copper metabolism, including symptoms, diagnosis, and treatment.
POEMS Syndrome
Information about POEMS syndrome, 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.
Neurofibromatosis Type 1 (NF1)
Information about neurofibromatosis type 1 (NF1), including symptoms, diagnosis, and treatments.

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