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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.
Genes, DNA, and Chromosomes: Understand the...
Information about what genes, DNA, chromosomes, proteins, mutations, and the human genome are, and how they relate to each other.
What Researchers Have Learned about ALD, the...
Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
Sarcoidosis
Information about sarcoidosis, including its symptoms, diagnosis and treatment.
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.
Multiple Myeloma
Information about multiple myeloma (blood cell cancer), its symptoms, diagnosis, and treatment.
How many types of dwarfism are there?
Information about how many types of dwarfism there are, and the main types, with links to more information.
What Happens During An Echocardiogram?
Information about what happens during an echocardiogram.
Mad Cow Disease in Humans
An overview of mad cow disease (variant Creutzfeldt-Jakob disease) in humans including its symptoms, diagnosis, and treatment.
The Rain Man's Disorder: Savant Syndrome
class="no-js" itemscope itemtype="http://schema.org/Article" > itemprop="description" >The 1988 movie
Bubonic Plague
Information about bubonic plague, including its symptoms, how it's spread, diagnosis and treatment.
Patau Syndrome (Trisomy 13)
An overview of Patau syndrome, or Trisomy 13, including its symptoms, diagnosis, and treatment.
The Elephant Man's Bones Reveal Mystery
Article looks at the medical findings in the case of Joseph Merrick, known as The Elephant Man.
Lorenzo Odone
Information about the life of Lorenzo Odone and Lorenzo's oil.
RSD (Reflex Sympathetic Dystrophy)
Information about RSD (reflex sympathetic dystrophy), also known as CRPS, including symptoms, diagnosis, and treatment.
President Lincoln and Marfan Syndrome
The debate about whether U.S. President Abraham Lincoln had Marfan syndrome.
Hematologist-Oncologist
Definition of hematologist-oncologist
Cat Eye Syndrome
Information about the genetic birth defect called cat eye syndrome, including its symptoms, diagnosis, and treatment.
What was the movie "Lorenzo's Oil" about?
Lorenzo's Oil ." The movie also shows Lorenzo becoming completely bedridden and disabled as his disease
Myasthenia Gravis
Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.
Toms River Cancer Cluster Settlement
Feature article on the Toms River, NJ, cancer cluster.
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.
Pictures of Bubonic Plague
During the Middle Ages, bubonic plague , known as the "Black Death," killed thousands of people. Bubonic
What Happens During a CT Scan?
Description of what a CT scan is and what happens during the procedure.
Munchausen Syndrome: Know The Signs of This...
Article describes Munchausen syndrome by proxy, its diagnosis, effects, and treatment.
Spina Bifida
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
Leprosy (Hansen's Disease)
Article describes leprosy, its symptoms, diagnosis, and treatment.
VACTERL Association
Information about VACTERL association (a group of birth defects that occur together), including 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.
Guillain-Barre Syndrome
Article describes Guillain-Barre syndrome, 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.
What Is A CT Scan?
Description of what a CT (computed tomography) scan is, what it is used for, and how it is done.
Antiphospholipid Syndrome
An overview of the autoimmune disorder, antiphopholipid syndrome, including its 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.
Blood Cell Cancers
Information about different types of blood cell cancers, including symptoms, diagnosis and treatments.
Hurler Syndrome (MPS I)
Information about Hurler syndrome (MPS I), including its symptoms, diagnosis, and treatment.
What is Lorenzo's Oil?
Information about what Lorenzo's oil is and what it is used for.
Albinism
Article describes the types of albinism which occur most often, their 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.
Sickle Cell Anemia
Information about sickle cell anemia including its symptoms, diagnosis, and treatment.
Scleroderma
Information about the different types of scleroderma, including 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.
Facts About Smallpox Disease
Article describes smallpox disease, including symptoms, the U.S. vaccination program, and issues about its use as a biological weapon.
Hidradenitis Suppurativa
Article describes hidradenitis suppurativa, its symptoms, and treatment.
Gitelman Syndrome
Information about Gitelman syndrome, an inherited kidney disease, including symptoms, diagnosis, and treatment.
Trisomy 18 - Edwards Syndrome
An overview of Trisomy 18, also called Edwards syndrome, including its symptoms, diagnosis, and treatment.
Myelodysplastic Syndrome
Information about myelodysplastic sydrome (MDS), including symptoms, diagnosis, and treatment.
Lissencephaly
Information about lissencephaly, including its symptoms, diagnosis and treatment.
Why Is Getting A Rare Disease Diagnosis So...
Reasons why getting a diagnosis for a rare disease can be a difficult, long and frustrating process.
Einstein, Newton, and Asperger Syndrome
Article describes Asperger syndrome, and the debate about whether Albert Einstein and Isaac Newton had it.
Echocardiogram
Information about what an echocardiogram is and why it is done.
Christmas Disease and Hemophilia
Article describes hemophilia, its history and discovery, hemophilia A (classic hemophilia) and hemophilia B (Christmas disease), and their treatment.
Chromosome 16 Disorders
Article describes some of the disorders of chromosome 16, such as trisomy 16, and lists their symptoms.
Dermatomyositis
Article describes dermatomyositis, its symptoms, diagnosis, and treatment.
Lymphangiomatosis
Information about lymphangiomatosis, including symptoms, diagnosis, treatment, and support.
Kartagener Syndrome
Information about Kartagener syndrome (primary ciliary dyskinesia), including its symptoms, diagnosis, and treatment.
How Is Bubonic Plague Spread?
Information and pictures about how bubonic plague is spread
Hemolysis
Definition of hemolysis. Rare Diseases.
Laurence-Moon-Bardet-Biedl Syndrome
Information about Laurence-Moon-Bardet-Biedl syndrome, 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.
Granuloma
Definition of granuloma. Rare Diseases.
Cutaneous T-Cell Lymphoma
An overview of the types of cutaneous T-cell lyphomas (CTCL), their symptoms, diagnosis, and treatment, including orphan drug treatments.
Hamburger Disease (Hemolytic Uremic Syndrome)
Information about hemolytic uremic syndrome, also known as hamburger disease, its symptoms, diagnosis, and treatment.
Progressive Supranuclear Palsy
Article describes progressive supranuclear palsy, its symptoms, diagnosis, and treatment.
This Rare Condition Causes Premature Aging
Article describes the progeria syndromes, their symptoms, and possible causes.
Angelman Syndrome
Article describes Angelman syndrome, its symptoms, diagnosis, and treatment.
Turner Syndrome
Article describes Turner syndrome, its diagnosis, and treatment.
Addison's Disease
Article describes Addison's disease, its diagnosis, and treatment.
Kawasaki Syndrome
An overview of Kawasaki syndrome, including its symptoms, diagnosis, and treatment.
Polycythemia Vera
An overview of the rare disease, polycythemia vera, including its symptoms, diagnosis, and treatment.
Stiff Person Syndrome
Information about stiff person syndrome, 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.
Prader-Willi Syndrome
Article describes Prader-Willi syndrome, its symptoms, diagnosis, and treatment.
Opsoclonus-Myoclonus Syndrome
Article describes opsoclonus-myoclonus syndrome, 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.
Russell-Silver Syndrome
An overview of Russell-Silver syndrome, 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.
Gastroschisis
Information about gastroschisis, including its symptoms, diagnosis, and treatment.
Batten Disease
Information about juvenile neuronal ceroid lipofuscinosis, also called Batten disease, including its symptoms, diagnosis, and treatment.
Hypotonia
What hypotonia is and how it affects the body
Lambert-Eaton Myasthenic Syndrome
Article describes Lambert-Eaton myasthenic 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,
Prune Belly (Eagle-Barrett) Syndrome
An overview of Prune Belly syndrome (also known as Eagle-Barrett) including 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.
Minamata Disease
Article describes the industrial pollution in Minamata, Japan, and the resulting effects of mercury poisoning in the people there.
Mycosis Fungoides
An overview of mycosis fungoides, a type of cutaneous T-cell lymphoma, including 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.
Aplastic Anemia
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.
Carpenter Syndrome
Information about Carpenter syndrome, a syndrome of genetic birth defects, including its symptoms, diagnosis, and treatment.
Anemia
Information about what anemia is, what symptoms it causes, and what causes it.
Xeroderma Pigmentosum
Information about xeroderma pigmentosum, an inherited disease that causes sun sensitivity, including 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.
Pompe Disease
An overview of the inherited condition, Pompe disease (glycogen storage disease type II), including 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.
Ehlers-Danlos Syndrome
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
Wegener Granulomatosis
Article describes Wegener granulomatosis, 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,
Fitz-Hugh-Curtis Syndrome
Article describes Fitz-Hugh-Curtis syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Hand Gangrene
Picture of gangrene in the hand caused by bubonic plague. Page 11.
Seckel Syndrome
Information about Seckel syndrome, a form of primordial dwarfism, including 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.
Hunter Syndrome
Article describes Hunter syndrome (mucopolysaccharidosis II), its symptoms, diagnosis, and treatment.
Vogt-Koyanagi-Harada Syndrome
Article describes Vogt-Koyanagi-Harada (VKH) syndrome, its symptoms, diagnosis, and treatment.
Huntington Disease
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
Marfan Syndrome
Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.
Duchenne Muscular Dystrophy
Information about Duchenne muscular dystrophy (DMD) including who gets it, the symptoms, diagnosis, and treatments.
Jeune Syndrome
Article describes Jeune syndrome (asphyxiating thoracic dystrophy), its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Foot Gangrene
Foot gangrene caused by bubonic plague. Page 15.
Kennedy Disease
Article describes Kennedy disease (also known as spinal bulbar muscular atrophy), its symptoms, diagnosis, and treatment.
Phenylketonuria (PKU) Disease
An overview of phenylketonuria (PKU), an inherited metabolic disorder, including symptoms, testing, 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.
Bubonic Plague Pictures: Cat
Cats are highly susceptible to plague infection and frequently die of the disease. Page 12.
Rare Diseases: Basic Information
Rare diseases basic information and FAQs.
Arthrogryposis
Article describes arthrogryposis, its diagnosis, and treatment.
Aortic Dissection
Information about aortic dissection, its causes, diagnosis, and treatment.
Bubonic Plague Pictures: Flea
An adult male Oropsylla Montana flea, a carrier of bubonic plague bacteria. Page 7.
CHARGE Syndrome
Information about the genetic birth defect known as CHARGE syndrome, its symptoms, diagnosis and treatment.
What happens during an EEG?
Describes what happens during an EEG, and why this type of medical test is done.
Bubonic Plague Pictures: Boy with Plague
After the incubation period of 2 to 6 days, symptoms of bubonic plague appear, including severe malaise,
Essential Thrombocythemia
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
Primary Lateral Sclerosis
Information about primary lateral sclerosis (PLS), including its symptoms, diagnosis, and treatment.
Canavan Disease
Information about the genetic disorder Canavan disease, a type of leukodystrophy that affects the brain tissue.
Neurofibromatosis Type 2 (NF2)
Information about neurofibromatosis type 2 (NF2), including symptoms, diagnosis, and treatments.
Jackson-Weiss Syndrome
Information about Jackson-Weiss syndrome, including 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.
Poland Syndrome
An overview of the rare disease, Poland syndrome, including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Plague Bacteria
Photomicrograph of a blood smear containing Yersinia pestis plague bacteria. Page 8.
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.
Osteopetrosis
An overview of the congenital disorder, osteopetrosis, including its symptoms, diagnosis, and treatment.
Multiple System Atrophy
Article describes multiple system atrophy, its symptoms, diagnosis, and treatment.
Churg Strauss Syndrome
Article describes Churg Strauss syndrome, 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: Cat in a Burrow
Picture of a cat finding shelter in a burrow. Page 13.
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.
Reye's Syndrome
Information about Reye's syndrome, its symptoms, diagnosis, treatment, and prevention.
Jerry's Kids - Muscular Dystrophy
Article provides information about the nine types of muscular dystrophy, and links to information and resources.
Congenital Central Hypoventilation Syndrome
Article describes congenital central hypoventilation syndrome (formerly known as Ondine curse), its symptoms, diagnosis, and treatment.
What You Need to Know About Schwartz-Jampel...
Article describes Schwartz-Jampel 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.
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 Cystic Fibrosis
An overview of cystic fibrosis, including its symptoms, diagnosis, treatment and research on the genetic disease.
Mitochondrial Disease
Article describes mitochondrial disease, its symptoms, and treatments.
MMIH Syndrome
Information about megacystis microcolon intestinal hypoperistalsis syndrome (MMIH), 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.
Eisenmenger Syndrome
Information about Eisenmenger syndrome, including its symptoms, diagnosis, and treatment.
Michael J. Fox and Parkinson's Disease
Article describes Parkinson's disease, its possible causes, and treatments.
Paroxysmal Nocturnal Hemoglobinuria
Information about paroxysmal nocturnal hemoglobinuria (PNH) including its symptoms, diagnosis, treatment, and ongoing research.

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