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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.
What You Should Know About Blood Cell Cancer
Information about multiple myeloma (blood cell cancer), its symptoms, diagnosis, and treatment.
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 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.
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.
Myasthenia Gravis
Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.
What Happens During An Echocardiogram?
Information about what happens during an echocardiogram.
Kawasaki Syndrome
An overview of Kawasaki syndrome, including its symptoms, diagnosis, and treatment.
Amyotrophic Lateral Sclerosis (ALS)
Article describes ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig's disease, its symptoms, diagnosis, and treatment.
Scleroderma
Information about the different types of scleroderma, including symptoms, diagnosis, and treatment.
Sickle Cell Anemia
Information about sickle cell anemia including its 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.
What You Should Know About the Rain Man's...
class="no-js" itemscope itemtype="http://schema.org/Article" > itemprop="description" >The 1988 movie
Myelodysplastic Syndrome
Information about myelodysplastic sydrome (MDS), including symptoms, diagnosis, and treatment.
Understanding Cancers of the Blood Cells
Information about different types of blood cell cancers, including symptoms, diagnosis and treatments.
Hidradenitis Suppurativa
Article describes hidradenitis suppurativa, its symptoms, and treatment.
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.
The Effects of Having an Extra Copy of...
An overview of Patau syndrome, or Trisomy 13, 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.
Idiopathic Thrombocytopenic Purpura (ITP)
Information about idiopathic thrombocytopenic purpura, also called immune thromobocytopenic purpura, including the types, symptoms, diagnosis, and treatment.
Hematologist-Oncologist
Definition of hematologist-oncologist
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.
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.
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.
What was the movie "Lorenzo's Oil" about?
Information about the movie. Rare Diseases.
An Overview of Spina Bifida
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
Must-Know Facts About Leprosy
Article describes leprosy, its symptoms, diagnosis, and treatment.
What You Need to Know About the Bubonic Plague
Information and pictures about how bubonic plague is spread
Huntington Disease
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
MMIH Syndrome
Information about megacystis microcolon intestinal hypoperistalsis syndrome (MMIH), its symptoms, diagnosis, and treatment.
Interstitial Cystitis
Information about interstitial cystitis (IC), also known as painful bladder syndrome (PBS), including symptoms, diagnosis and treatments.
Trisomy 18 - Edwards Syndrome
An overview of Trisomy 18, also called Edwards syndrome, including its symptoms, diagnosis, and treatment.
Did You Know the Bubonic Plague Still Exists?
Information about bubonic plague, including its symptoms, how it's spread, diagnosis and treatment.
Primordial Dwarfism
Information about primordial dwarfism, including its symptoms, diagnosis, and treatment.
An Interesting Look at President Lincoln's Health
The debate about whether U.S. President Abraham Lincoln had Marfan syndrome.
What Is Christmas Disease?
Article describes hemophilia, its history and discovery, hemophilia A (classic hemophilia) and hemophilia B (Christmas disease), and their treatment.
Echocardiogram
Information about what an echocardiogram is and why it is done.
Williams Syndrome
Article describes Williams syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Foot Gangrene
Foot gangrene caused by bubonic plague. Page 15.
What Is A CT Scan?
Description of what a CT (computed tomography) scan is, what it is used for, and how it is done.
Gitelman Syndrome
Information about Gitelman syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.
Polycythemia Vera
An overview of the rare disease, polycythemia vera, including its symptoms, diagnosis, and treatment.
Batten Disease
Information about juvenile neuronal ceroid lipofuscinosis, also called Batten disease, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Hand Gangrene
Picture of gangrene in the hand caused by bubonic plague. Page 11.
Wegener Granulomatosis
Article describes Wegener granulomatosis, 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.
Pictures of Bubonic Plague
During the Middle Ages, bubonic plague , known as the "Black Death," killed thousands of people. Bubonic
Essential Thrombocythemia
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Developing Foot Gangrene
The feet of a person, who is developing gangrene, infected with bubonic plague. Page 10.
Aortic Dissection
Information about aortic dissection, its causes, diagnosis, and treatment.
Turner Syndrome
Article describes Turner syndrome, its 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.
Hemolysis
Definition of hemolysis. Rare Diseases.
Angelman Syndrome
Article describes Angelman syndrome, its symptoms, diagnosis, and treatment.
What is Lorenzo's Oil?
Information about what Lorenzo's oil is and what it is used for.
How Genetic Disorders Are Inherited
Information about the different ways that genetic disorders are inherited, including autosomal dominant, autosomal recessive, and more.
Aplastic Anemia
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.
Waldenstrom’s Macroglobulinemia
Information about Waldenstrom's macroglobulinemia (WM), a white blood cell cancer, including risk factors, symptoms, diagnosis, staging, and treatment.
Guillain-Barre Syndrome
Article describes Guillain-Barre syndrome, its symptoms, diagnosis, and treatment.
Reye's Syndrome
Information about Reye's syndrome, its symptoms, diagnosis, treatment, and prevention.
Bubonic Plague Pictures: Cat
Cats are highly susceptible to plague infection and frequently die of the disease. Page 12.
Opsoclonus-Myoclonus Syndrome
Article describes opsoclonus-myoclonus syndrome, its symptoms, diagnosis, and treatment.
Prader-Willi Syndrome
Article describes Prader-Willi syndrome, its 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.
Hurler Syndrome (MPS I)
Information about Hurler syndrome (MPS I), including 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.
Granuloma
Definition of granuloma. Rare Diseases.
Multiple System Atrophy
Article describes multiple system atrophy, its symptoms, diagnosis, and treatment.
Toms River Cancer Cluster Settlement
Feature article on the Toms River, NJ, cancer cluster.
Antiphospholipid Syndrome
An overview of the autoimmune disorder, antiphopholipid syndrome, including its symptoms, diagnosis, and treatment.
Hypopituitary Dwarfism
Information about growth hormone deficiency (hypopituitary dwarfism), its symptoms, diagnosis, and treatment.
Addison's Disease
Article describes Addison's disease, its diagnosis, and treatment.
Chromosome 16 Disorders
Article describes some of the disorders of chromosome 16, such as trisomy 16, and lists their symptoms.
Polycystic Kidney Disease
Article describes the types of polycystic kidney disease (PKD), their symptoms, diagnosis, and treatment.
Mycosis Fungoides
An overview of mycosis fungoides, a type of cutaneous T-cell lymphoma, including its symptoms, diagnosis, and treatment.
Lorenzo Odone
Information about the life of Lorenzo Odone and Lorenzo's oil.
Your Guide to Understanding Albinism
Article describes the types of albinism which occur most often, their symptoms, diagnosis, and treatment.
Duchenne Muscular Dystrophy
Information about Duchenne muscular dystrophy (DMD) including who gets it, the symptoms, diagnosis, and treatments.
What Happens During a CT Scan?
Description of what a CT scan is and what happens during the procedure.
Bubonic Plague Pictures: Weasel
A weasel can have fleas that carry bubonic plague bacteria. Page 17.
Neurofibromatosis Type 1 (NF1)
Information about neurofibromatosis type 1 (NF1), including symptoms, diagnosis, and treatments.
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.
What is Celiac Disease?
Information about celiac disease including its symptoms, diagnosis, and treatment.
What Is a DNA Test?
Information about what a DNA test is, how it's done, and why it is done.
What happens during an EEG?
Describes what happens during an EEG, and why this type of medical test is done.
Thalassemia: Old Diseases, New Research
Article describes the different types of thalassemia, their symptoms, diagnoses, and treatments.
Munchausen Syndrome By Proxy
Article describes Munchausen syndrome by proxy, its diagnosis, effects, 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.
Einstein, Newton, and Asperger Syndrome
Article describes Asperger syndrome, and the debate about whether Albert Einstein and Isaac Newton had it.
Bubonic Plague Pictures: Cat in a Burrow
Picture of a cat finding shelter in a burrow. Page 13.
What is Cystic Fibrosis
An overview of cystic fibrosis, including its symptoms, diagnosis, treatment and research on the genetic disease.
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.
Glioma Treatment Research
Article describes glioma, a type of brain cancer, its symptoms, diagnosis, treatment, and areas of research regarding treatment. Page 2.
Dermatomyositis
Article describes dermatomyositis, its symptoms, diagnosis, and treatment.
Marfan Syndrome
Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.
Gastroschisis
Information about gastroschisis, 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.
Neurofibromatosis Type 2 (NF2)
Information about neurofibromatosis type 2 (NF2), including symptoms, diagnosis, and treatments.
All About Rare Diseases
Rare diseases basic information and FAQs.
Hunter Syndrome
Article describes Hunter syndrome (mucopolysaccharidosis II), its symptoms, diagnosis, and treatment.
VACTERL Association
Information about VACTERL association (a group of birth defects that occur together), including symptoms, diagnosis, and treatment.
Lissencephaly
Information about lissencephaly, including its symptoms, diagnosis and treatment.
Arthrogryposis
Article describes arthrogryposis, its diagnosis, and treatment.
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.
Prune Belly (Eagle-Barrett) Syndrome
An overview of Prune Belly syndrome (also known as Eagle-Barrett) including its symptoms, diagnosis, and treatments.
Xeroderma Pigmentosum
Information about xeroderma pigmentosum, an inherited disease that causes sun sensitivity, including its symptoms, diagnosis, and treatment.
Carpenter Syndrome
Information about Carpenter syndrome, a syndrome of genetic birth defects, including its symptoms, diagnosis, and treatment.
Ehlers-Danlos Syndrome
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
CHARGE Syndrome
Information about the rare, genetic birth defect known as CHARGE syndrome, its symptoms, diagnosis, and treatments.
Idiopathic Myelofibrosis
Information about idiopathic myelofibrosis, also known as agnogenic myeloid metaplasia, including symptoms, diagnosis and treatment.
Pompe Disease
An overview of the inherited condition, Pompe disease (glycogen storage disease type II), including symptoms, diagnosis, and treatment.
Toxic Epidermal Necrolysis
Information about toxic epidermal necrolysis (TEN), including causes, 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.
Bubonic Plague Pictures: Setting Rat Traps
A man setting traps for rats during a plague study. Page 18.
Progressive Supranuclear Palsy
Article describes progressive supranuclear palsy, its symptoms, diagnosis, and treatment.
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.
Bubonic Plague Pictures: Dog Blood Test
Taking a blood sample from a dog to test for plague infection. Page 14.
Apert Syndrome
An overview of the genetic condition Apert syndrome, including its symptoms, diagnosis, and treatment.
Phenylketonuria (PKU) Disease
An overview of phenylketonuria (PKU), an inherited metabolic disorder, including symptoms, testing, 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
Bubonic Plague Pictures: Flea Powder
Using flea powder to kill fleas on pets helps control the spread of bubonic plague. Page 9.
Tuberous Sclerosis
Information about tuberous sclerosis, including its symptoms, diagnosis, and treatment.
Post-Polio Syndrome
Information about post-polio syndrome including symptoms, diagnosis, and treatment.
Wilson's Disease
Information about Wilson's disease, an inherited genetic disorder of copper metabolism, including symptoms, diagnosis, and treatment.
Kennedy Disease
Article describes Kennedy disease (also known as spinal bulbar muscular atrophy), its symptoms, diagnosis, and treatment.
DiGeorge Syndrome
Article describes DiGeorge syndrome, its symptoms, and treatment.
Acquired Ichthyosis Vulgaris
An overview of the skin disorder, acquired ichthyosis vulgaris, including its symptoms, diagnosis and treatment.
Lambert-Eaton Myasthenic Syndrome
Article describes Lambert-Eaton myasthenic syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Plague Bacteria
Photomicrograph of a blood smear containing Yersinia pestis plague bacteria. Page 8.
Scoliosis
Information about what scoliosis is and why it happens.
Stiff Person Syndrome
Information about stiff person syndrome, its symptoms, diagnosis, and treatment.
Seckel Syndrome
Information about Seckel syndrome, a form of primordial dwarfism, including symptoms, diagnosis, and treatment.
What You Need to Know About Schwartz-Jampel...
Article describes Schwartz-Jampel 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.
Neurofibromatosis
Information about the different types of neurofibromatosis (NF), including symptoms, diagnosis, and treatments.
Horner Syndrome
Article describes Horner syndrome, its symptoms, diagnosis, and treatment.
Churg Strauss Syndrome
Article describes Churg Strauss syndrome, 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,
Congenital Central Hypoventilation Syndrome
Article describes congenital central hypoventilation syndrome (formerly known as Ondine curse), its symptoms, diagnosis, and treatment.
Moebius Syndrome
Article describes Moebius syndrome, its symptoms, and treatment.
Paroxysmal Nocturnal Hemoglobinuria
Information about paroxysmal nocturnal hemoglobinuria (PNH) including its symptoms, diagnosis, treatment, and ongoing research.
Bubonic Plague Pictures: Flea
An adult male Oropsylla Montana flea, a carrier of bubonic plague bacteria. Page 7.
MELAS Syndrome
Article describes MELAS syndrome, its symptoms, diagnosis, and treatment.
Niemann-Pick Disease
Information about the types of Niemann-Pick diseases including symptoms, diagnosis, and treatments.
Bubonic Plague Pictures: Arm Bleeding
Picture of the arm of a person with bubonic plague, showing bleeding under the skin. Page 19.
Seizure
Definition of what a seizure is. Rare Diseases.
Bartter Syndrome
Information about Bartter syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.
Fitz-Hugh-Curtis Syndrome
Article describes Fitz-Hugh-Curtis syndrome, its symptoms, diagnosis, and treatment.
Russell-Silver Syndrome
An overview of Russell-Silver syndrome, including its symptoms, diagnosis, and treatment.

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