Rare Diseases: Most Popular Articles
These articles are the most popular over the last month.
ALD and Lorenzo's Oil
Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
Information about adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
Bubonic Plague
Information about bubonic plague, including its symptoms, how it's spread, diagnosis and treatment.
Information about bubonic plague, including its symptoms, how it's spread, diagnosis and treatment.
Bubonic Plague Pictures: Foot Gangrene
Foot gangrene caused by bubonic plague
Foot gangrene caused by bubonic plague
Mad Cow Disease and Humans
Article describes mad cow disease (variant Creutzfeldt-Jakob disease), its symptoms, diagnosis, and treatment.
Article describes mad cow disease (variant Creutzfeldt-Jakob disease), its symptoms, diagnosis, and treatment.
Multiple Myeloma
Information about multiple myeloma (blood cell cancer), its symptoms, diagnosis, and treatment.
Information about multiple myeloma (blood cell cancer), its symptoms, diagnosis, and treatment.
Bone Marrow Transplant
A bone marrow transplant is when special cells (called stem cells) that are normally found in the bone marrow are taken out, filtered, and given back either to the same person or to another person.
A bone marrow transplant is when special cells (called stem cells) that are normally found in the bone marrow are taken out, filtered, and given back either to the same person or to another person.
Trisomy 18
Information about Trisomy 18, also called Edwards syndrome, including its symptoms, diagnosis, and treatment.
Information about Trisomy 18, also called Edwards syndrome, including its symptoms, diagnosis, and treatment.
Leprosy (Hansen's Disease)
Article describes leprosy, its symptoms, diagnosis, and treatment.
Article describes leprosy, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Arm Bubo
A person with bubonic plague has a swollen lymph node, called a "bubo," in his armpit.
A person with bubonic plague has a swollen lymph node, called a "bubo," in his armpit.
Genes, DNA, & Chromosomes
Information about what genes, DNA, chromosomes, proteins, mutations, and the human genome are, and how they relate to each other.
Information about what genes, DNA, chromosomes, proteins, mutations, and the human genome are, and how they relate to each other.
Bubonic Plague Pictures: Neck Bubo
Picture of the neck of a person with bubonic plague, showing a swollen lymph gland, called a "bubo."
Picture of the neck of a person with bubonic plague, showing a swollen lymph gland, called a "bubo."
Spina Bifida
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
The Elephant Man
Article looks at the medical findings in the case of Joseph Merrick, known as The Elephant Man.
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.
Information about the life of Lorenzo Odone and Lorenzo's oil.
Patau Syndrome (Trisomy 13)
Article describes Patau syndrome (Trisomy 13), its symptoms, diagnosis, and treatment.
Article describes Patau syndrome (Trisomy 13), its symptoms, diagnosis, and treatment.
Types of Dwarfism
Information about how many types of dwarfism there are, and the main types, with links to more information.
Information about how many types of dwarfism there are, and the main types, with links to more information.
Savant Syndrome
Article describes savant syndrome, and its portrayal in the movie "The Rain Man."
Article describes savant syndrome, and its portrayal in the movie "The Rain Man."
Cat Eye Syndrome
Information about the genetic birth defect called cat eye syndrome, including its symptoms, diagnosis, and treatment.
Information about the genetic birth defect called cat eye syndrome, including its symptoms, diagnosis, and treatment.
Maple Syrup Urine Disease
Article describes maple syrup urine disease, its symptoms, diagnosis, and treatment.
Article describes maple syrup urine disease, its symptoms, diagnosis, and treatment.
Primordial Dwarfism
Information about primordial dwarfism, including its symptoms, diagnosis, and treatment.
Information about primordial dwarfism, including its symptoms, diagnosis, and treatment.
Myelodysplastic Syndrome
Information about myelodysplastic sydrome (MDS), including symptoms, diagnosis, and treatment.
Information about myelodysplastic sydrome (MDS), including symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Hand Gangrene
Picture of gangrene in the hand caused by bubonic plague.
Picture of gangrene in the hand caused by bubonic plague.
Lincoln and Marfan Syndrome
The debate about whether U.S. President Abraham Lincoln had Marfan syndrome.
The debate about whether U.S. President Abraham Lincoln had Marfan syndrome.
Parkinson's Disease
Article describes Parkinson's disease, its possible causes, and treatments.
Article describes Parkinson's disease, its possible causes, and treatments.
Wolf-Hirschhorn Syndrome
Article describes Wolf-Hirschhorn syndrome, its symptoms, diagnosis, and treatment.
Article describes Wolf-Hirschhorn syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Arm
This person with bubonic plague has a swollen lymph node, called a "bubo," in the armpit.
This person with bubonic plague has a swollen lymph node, called a "bubo," in the armpit.
Mycosis Fungoides
Article describes mycosis fungoides, its symptoms, diagnosis, and treatment.
Article describes mycosis fungoides, its symptoms, diagnosis, and treatment.
Turner Syndrome
Article describes Turner syndrome, its diagnosis, and treatment.
Article describes Turner syndrome, its diagnosis, and treatment.
Albinism
Article describes the types of albinism which occur most often, their symptoms, diagnosis, and treatment.
Article describes the types of albinism which occur most often, their 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.
Article describes glioma, a type of brain cancer, its symptoms, diagnosis, treatment, and areas of research regarding treatment.
Sickle Cell Anemia
Information about sickle cell anemia including its symptoms, diagnosis, and treatment.
Information about sickle cell anemia including its symptoms, diagnosis, and treatment.
PERRLA
What PERRLA means in medicine and when it's used.
What PERRLA means in medicine and when it's used.
Christmas Disease
Article describes hemophilia, its history and discovery, hemophilia A (classic hemophilia) and hemophilia B (Christmas disease), and their treatment.
Article describes hemophilia, its history and discovery, hemophilia A (classic hemophilia) and hemophilia B (Christmas disease), and their treatment.
Bubonic Plague Pictures: Flea
An adult male Oropsylla Montana flea, a carrier of bubonic plague bacteria.
An adult male Oropsylla Montana flea, a carrier of bubonic plague bacteria.
Progeria Syndromes
Article describes the progeria syndromes, their symptoms, and possible causes.
Article describes the progeria syndromes, their symptoms, and possible causes.
Bubonic Plague Pictures: Boy with Plague
A boy with bubonic plague has a swollen lymph node, called "bubo," in his left armpit and swelling under his eyes.
A boy with bubonic plague has a swollen lymph node, called "bubo," in his left armpit and swelling under his eyes.
Hypopituitary Dwarfism
Information about growth hormone deficiency (hypopituitary dwarfism), its symptoms, diagnosis, and treatment.
Information about growth hormone deficiency (hypopituitary dwarfism), its symptoms, diagnosis, and treatment.
Chromosome 16 Disorders
Article describes some of the disorders of chromosome 16, such as trisomy 16, and lists their symptoms.
Article describes some of the disorders of chromosome 16, such as trisomy 16, and lists their symptoms.
Cri-du-Chat Syndrome
Article describes cri-du-chat syndrome, its symptoms, diagnosis, and treatment.
Article describes cri-du-chat syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Sewer Rat
A Norway rat, also known as brown rat or sewer rat, can carry bubonic plague.
A Norway rat, also known as brown rat or sewer rat, can carry bubonic plague.
Bubonic Plague Pictures: Plague Bacteria
Picture of bubonic plague bacteria from an infected lymph node, or bubo
Picture of bubonic plague bacteria from an infected lymph node, or bubo
CHARGE Syndrome
Information about the genetic birth defect known as CHARGE syndrome, its symptoms, diagnosis and treatment.
Information about the genetic birth defect known as CHARGE syndrome, its symptoms, diagnosis and treatment.
Kartagener Syndrome
Information about Kartagener syndrome (primary ciliary dyskinesia), including its symptoms, diagnosis, and treatment.
Information about Kartagener syndrome (primary ciliary dyskinesia), including its symptoms, diagnosis, and treatment.
Angelman Syndrome
Article describes Angelman syndrome, its symptoms, diagnosis, and treatment.
Article describes Angelman syndrome, 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.
Picture of permethrin-treated cotton. The cotton is collected by rats and brought back to their nests.
Bubonic Plague Pictures: Arm Bleeding
Picture of the arm of a person with bubonic plague, showing bleeding under the skin.
Picture of the arm of a person with bubonic plague, showing bleeding under the skin.
Blackfan Diamond Anemia
Information about Blackfan Diamond anemia including its symptoms, diagnosis, and treatment.
Information about Blackfan Diamond anemia including its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Developing Foot Gangrene
The feet of a person, who is developing gangrene, infected with bubonic plague.
The feet of a person, who is developing gangrene, infected with bubonic plague.
Einstein, Newton, and Asper...
Article describes Asperger syndrome, and the debate about whether Albert Einstein and Isaac Newton had it.
Article describes Asperger syndrome, and the debate about whether Albert Einstein and Isaac Newton had it.
Prader-Willi Syndrome
Article describes Prader-Willi syndrome, its symptoms, diagnosis, and treatment.
Article describes Prader-Willi syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Cat
Cats are highly susceptible to plague infection and frequently die of the disease.
Cats are highly susceptible to plague infection and frequently die of the disease.
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.
Article describes what an orphan drug is, and how the United States and European Union governments support orphan drug research and development.
Bubonic Plague Pictures: Setting Rat Traps
A man setting traps for rats during a plague study.
A man setting traps for rats during a plague study.
Lorenzo's Oil
Information about what Lorenzo's oil is and what it is used for.
Information about what Lorenzo's oil is and what it is used for.
Autoimmune Kidney Disease
Article describes IgA nephropathy (autoimmune kidney disease), its symptoms, diagnosis, and treatment.
Article describes IgA nephropathy (autoimmune kidney disease), its symptoms, diagnosis, and treatment.
MELAS Syndrome
Article describes MELAS syndrome, its symptoms, diagnosis, and treatment.
Article describes MELAS syndrome, 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.
Article describes the industrial pollution in Minamata, Japan, and the resulting effects of mercury poisoning in the people there.
Lorenzo's Oil Movie
Information about the movie "Lorenzo's Oil" including when it was made, what it was about, and who starred in it.
Information about the movie "Lorenzo's Oil" including when it was made, what it was about, and who starred in it.
Bubonic Plague Pictures: Dog Blood Test
Taking a blood sample from a dog to test for plague infection.
Taking a blood sample from a dog to test for plague infection.
Twin-to-Twin Transfusion Synd
Article describes twin-to-twin transfusion syndrome, its symptoms, diagnosis, and treatment.
Article describes twin-to-twin transfusion syndrome, its symptoms, diagnosis, and treatment.
Multiple System Atrophy
Article describes multiple system atrophy, its symptoms, diagnosis, and treatment.
Article describes multiple system atrophy, its symptoms, diagnosis, and treatment.
Smallpox Disease
Article describes smallpox disease, including symptoms, the U.S. vaccination program, and issues about its use as a biological weapon.
Article describes smallpox disease, including symptoms, the U.S. vaccination program, and issues about its use as a biological weapon.
Bubonic Plague Pictures: Flea Powder
Using flea powder to kill fleas on pets helps control the spread of bubonic plague.
Using flea powder to kill fleas on pets helps control the spread of bubonic plague.
Bubonic Plague Pictures: Weasel
A weasel can have fleas that carry bubonic plague bacteria.
A weasel can have fleas that carry bubonic plague bacteria.
Essential Thrombocythemia
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
Arthrogryposis
Article describes arthrogryposis, its diagnosis, and treatment.
Article describes arthrogryposis, its diagnosis, and treatment.
Zellweger Syndrome
Article describes Zellweger syndrome, its symptoms, diagnosis, and treatment.
Article describes Zellweger syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Cat in a Burrow
Picture of a cat finding shelter in a burrow
Picture of a cat finding shelter in a burrow
Genetic Inheritance
Information about the different ways that genetic disorders are inherited, including autosomal dominant, autosomal recessive, and X-linked recessive inheritance.
Information about the different ways that genetic disorders are inherited, including autosomal dominant, autosomal recessive, and X-linked recessive inheritance.
Lambert-Eaton Myasthenic Synd
Article describes Lambert-Eaton myasthenic syndrome, its symptoms, diagnosis, and treatment.
Article describes Lambert-Eaton myasthenic syndrome, its symptoms, diagnosis, and treatment.
Newborn Screening
Information about screening newborn infants for genetic and metabolic disorders, including how it's done and what disorders are screened for.
Information about screening newborn infants for genetic and metabolic disorders, including how it's done and what disorders are screened for.
Huntington Disease
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
Mitochondrial Disease
Article describes mitochondrial disease, its symptoms, and treatments.
Article describes mitochondrial disease, its symptoms, and treatments.
Russell-Silver Syndrome
Article describes Russell-Silver syndrome, its symptoms, diagnosis, and treatment.
Article describes Russell-Silver syndrome, its symptoms, diagnosis, and treatment.
Muscular Dystrophy
Article provides information about the nine types of muscular dystrophy, and links to information and resources.
Article provides information about the nine types of muscular dystrophy, and links to information and resources.
POEMS Syndrome
Information about POEMS syndrome, its symptoms, diagnosis, and treatment.
Information about POEMS syndrome, its symptoms, diagnosis, and treatment.
Malignant Melanoma
Article describes malignant melanoma, a form of skin cancer, its diagnosis, and treatment.
Article describes malignant melanoma, a form of skin cancer, its diagnosis, and treatment.
Guillain-Barre Syndrome
Article describes Guillain-Barre syndrome, its symptoms, diagnosis, and treatment.
Article describes Guillain-Barre syndrome, its symptoms, diagnosis, and treatment.
Kikuchi Disease
Article describes Kikuchi disease, its symptoms, diagnosis, and treatment.
Article describes Kikuchi disease, its symptoms, diagnosis, and treatment.
Kawasaki Disease
Information about Kawasaki disease, its symptoms, diagnosis, and treatment.
Information about Kawasaki disease, its symptoms, diagnosis, and treatment.
Apert Syndrome
Information about Apert syndrome including its symptoms, diagnosis, and treatment.
Information about Apert syndrome including its symptoms, diagnosis, and treatment.
Phenylketonuria
Information about phenylketonuria (PKU), an inherited metabolic disorder, including symptoms, testing, diagnosis, and treatment.
Information about phenylketonuria (PKU), an inherited metabolic disorder, including symptoms, testing, diagnosis, and treatment.
Cornelia de Lange Syndrome
Article describes Cornelia de Lange syndrome, its diagnosis, and treatment.
Article describes Cornelia de Lange syndrome, its diagnosis, and treatment.
Hunter Syndrome
Article describes Hunter syndrome (mucopolysaccharidosis II), its symptoms, diagnosis, and treatment.
Article describes Hunter syndrome (mucopolysaccharidosis II), its symptoms, diagnosis, and treatment.
Rare Diseases: Basic Info
Rare diseases basic information and FAQs.
Rare diseases basic information and FAQs.
Antiphospholipid Syndrome
Information about antiphopholipid syndrome including its symptoms, diagnosis, and treatment.
Information about antiphopholipid syndrome including its symptoms, diagnosis, and treatment.
Niemann-Pick Disease
Information about the types of Niemann-Pick diseases including symptoms, diagnosis, and treatments.
Information about the types of Niemann-Pick diseases including symptoms, diagnosis, and treatments.
Blood Cell Cancers
Information about different types of blood cell cancers, including symptoms, diagnosis and treatments.
Information about different types of blood cell cancers, including symptoms, diagnosis and treatments.
Pompe Disease
Information about Pompe disease (glycogen storage disease type II), including symptoms, diagnosis, and treatment.
Information about Pompe disease (glycogen storage disease type II), including symptoms, diagnosis, and treatment.
RSD
Information about RSD (reflex sympathetic dystrophy), also known as CRPS, including symptoms, diagnosis, and treatment.
Information about RSD (reflex sympathetic dystrophy), also known as CRPS, including symptoms, diagnosis, and treatment.
Embryonic Stem Cells
Article discusses using embryos in stem cell research, including how it's done and what the issues are.
Article discusses using embryos in stem cell research, including how it's done and what the issues are.
VACTERL Association
Information about VACTERL association (a group of birth defects that occur together), including symptoms, diagnosis, and treatment.
Information about VACTERL association (a group of birth defects that occur together), including symptoms, diagnosis, and treatment.
Vogt-Koyanagi-Harada Syndrome
Article describes Vogt-Koyanagi-Harada (VKH) syndrome, its symptoms, diagnosis, and treatment.
Article describes Vogt-Koyanagi-Harada (VKH) syndrome, its symptoms, diagnosis, and treatment.
A Look at Porphyria
Article discusses the different types of porphyria, their symptoms, diagnosis, and treatments.
Article discusses the different types of porphyria, their symptoms, diagnosis, and treatments.
The Children of Chernobyl
Article describes the health effects, especially thyroid cancer, on the children in the Chernobyl region since the nuclear accident in 1986.
Article describes the health effects, especially thyroid cancer, on the children in the Chernobyl region since the nuclear accident in 1986.
Castleman Disease
Article describes Castleman disease, its types, its symptoms, diagnosis, and treatment.
Article describes Castleman disease, its types, its symptoms, diagnosis, and treatment.
Cutaneous T-Cell Lymphoma
Article describes the types of cutaneous T-cell lyphoma (CTCL), their symptoms, diagnosis, and treatment, including orphan drug treatments. Learn about T-Cell lymphoma.
Article describes the types of cutaneous T-cell lyphoma (CTCL), their symptoms, diagnosis, and treatment, including orphan drug treatments. Learn about T-Cell lymphoma.
Fitz-Hugh-Curtis Syndrome
Article describes Fitz-Hugh-Curtis syndrome, its symptoms, diagnosis, and treatment.
Article describes Fitz-Hugh-Curtis syndrome, its symptoms, diagnosis, and treatment.
Aplastic Anemia
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.
Wiskott-Aldrich Syndrome
Article describes Wiskott-Aldrich syndrome, its symptoms, diagnosis, and treatment.
Article describes Wiskott-Aldrich syndrome, its symptoms, diagnosis, and treatment.
Polycythemia Vera
Article describes polycythemia vera, its symptoms, diagnosis, and treatment.
Article describes polycythemia vera, its symptoms, diagnosis, and treatment.
Williams Syndrome
Article describes Williams syndrome, its symptoms, diagnosis, and treatment.
Article describes Williams syndrome, its symptoms, diagnosis, and treatment.
Bubonic Plague Pictures: Norway Rat
The Norway rat, also called "brown rat" or "sewer rat," can carry fleas infected with bubonic plague.
The Norway rat, also called "brown rat" or "sewer rat," can carry fleas infected with bubonic plague.
Addison's Disease
Article describes Addison's disease, its diagnosis, and treatment.
Article describes Addison's disease, its diagnosis, and treatment.
Ferraro and Multiple Myeloma
Feature article on Geraldine Ferraro and multiple myeloma, including symptoms of the disease and its treatment.
Feature article on Geraldine Ferraro and multiple myeloma, including symptoms of the disease and its treatment.
Cystic Fibrosis
Information about cystic fibrosis, including its symptoms, diagnosis, treatment and research.
Information about cystic fibrosis, including its symptoms, diagnosis, treatment and research.
Hamburger Disease (HUS)
Information about hemolytic uremic syndrome, also known as hamburger disease, its symptoms, diagnosis, and treatment.
Information about hemolytic uremic syndrome, also known as hamburger disease, its symptoms, diagnosis, and treatment.
Graves' Disease
Article describes Graves' disease, its diagnosis, treatment, and areas of research about the disease.
Article describes Graves' disease, its diagnosis, treatment, and areas of research about the disease.
Leigh's Disease
Information about Leigh's disease, an inherited metabolic disorder, including symptoms, diagnosis, and treatment.
Information about Leigh's disease, an inherited metabolic disorder, including symptoms, diagnosis, and treatment.
Carpenter Syndrome
Information about Carpenter syndrome, a syndrome of genetic birth defects, including its symptoms, diagnosis, and treatment.
Information about Carpenter syndrome, a syndrome of genetic birth defects, including its symptoms, diagnosis, and treatment.
PNH
Information about paroxysmal nocturnal hemoglobinuria (PNH) including its symptoms, diagnosis, treatment, and ongoing research.
Information about paroxysmal nocturnal hemoglobinuria (PNH) including its symptoms, diagnosis, treatment, and ongoing research.
Fragile X Syndrome
Article describes Fragile X syndrome, its symptoms, diagnosis, and treatment.
Article describes Fragile X syndrome, its symptoms, diagnosis, and treatment.
Hurler Syndrome (MPS I)
Information about Hurler syndrome (MPS I), including its symptoms, diagnosis, and treatment.
Information about Hurler syndrome (MPS I), including its symptoms, diagnosis, and treatment.
Lissencephaly
Information about lissencephaly, including its symptoms, diagnosis and treatment.
Information about lissencephaly, including its symptoms, diagnosis and treatment.
XXY Males (Klinefelter's)
Article looks at XXY males (Klinefelter's syndrome) and their increased risk for breast cancer.
Article looks at XXY males (Klinefelter's syndrome) and their increased risk for breast cancer.
Bone Marrow Failure
Definition of what bone marrow failure is.
Definition of what bone marrow failure is.
Amyotrophic Lateral Sclerosis
Article describes ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig's disease, its symptoms, diagnosis, and treatment.
Article describes ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig's disease, its symptoms, diagnosis, and treatment.
Werner Syndrome
Article describes Werner syndrome, its symptoms, diagnosis, and treatment.
Article describes Werner syndrome, its symptoms, diagnosis, and treatment.
Munchausen Syndrome
Article describes Munchausen syndrome by proxy, its diagnosis, effects, and treatment.
Article describes Munchausen syndrome by proxy, its diagnosis, effects, and treatment.
Noonan Syndrome
Article describes Noonan syndrome, its symptoms, diagnosis, and treatment.
Article describes Noonan syndrome, its symptoms, diagnosis, and treatment.
Poland Syndrome
Article describes Poland syndrome, its symptoms, diagnosis, and treatment.
Article describes Poland syndrome, its symptoms, diagnosis, and treatment.
Hematologist-Oncologist
Definition of hematologist-oncologist
Definition of hematologist-oncologist
Myasthenia Gravis
Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.
Information about myasthenia gravis (MG), an autoimmune disorder, including symptoms, diagnosis and treatment.
Hereditary Angioedema
Information about the genetic disorder hereditary angioedema, its symptoms, diagnosis, and treatment.
Information about the genetic disorder hereditary angioedema, its symptoms, diagnosis, and treatment.
Kearns Sayre Syndrome
Article describes Kearns Sayre syndrome, its symptoms, diagnosis, and treatment.
Article describes Kearns Sayre syndrome, its symptoms, diagnosis, and treatment.
Prune Belly (Eagle-Barrett)
Article describes Prune Belly (Eagle-Barrett) syndrome, its symptoms, diagnosis, and treatments.
Article describes Prune Belly (Eagle-Barrett) syndrome, its symptoms, diagnosis, and treatments.
Batten Disease
Information about juvenile neuronal ceroid lipofuscinosis, also called Batten disease, including its symptoms, diagnosis, and treatment.
Information about juvenile neuronal ceroid lipofuscinosis, also called Batten disease, including its symptoms, diagnosis, and treatment.
Krabbe Disease
Article describes Krabbe disease, its symptoms, diagnosis, and treatment.
Article describes Krabbe disease, its symptoms, diagnosis, and treatment.
Menkes Disease
Article describes Menkes kinky hair disease, its symptoms, diagnosis, and treatment.
Article describes Menkes kinky hair disease, its symptoms, diagnosis, and treatment.
Stiff Person Syndrome
Information about stiff person syndrome, its symptoms, diagnosis, and treatment.
Information about stiff person syndrome, its symptoms, diagnosis, and treatment.
Hemosiderosis
Article describes hemosiderosis, its symptoms, and treatment.
Article describes hemosiderosis, its symptoms, and treatment.
Achondroplasia
Article discusses actor Josh Ryan Evans and achondroplasia, including the symptoms, diagnosis, and treatment of the disorder.
Article discusses actor Josh Ryan Evans and achondroplasia, including the symptoms, diagnosis, and treatment of the disorder.
Primary Lateral Sclerosis
Information about primary lateral sclerosis (PLS), including its symptoms, diagnosis, and treatment.
Information about primary lateral sclerosis (PLS), 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.
Information about what genetic testing is, the different kinds of genetic tests, why people get genetic tests and where to get them.
What is Celiac Disease?
Information about celiac disease including its symptoms, diagnosis, and treatment.
Information about celiac disease including its symptoms, diagnosis, and treatment.
Von Hippel-Lindau Disease
Article describes von Hippel-Lindau disease, its symptoms, diagnosis, and treatment.
Article describes von Hippel-Lindau disease, its symptoms, diagnosis, and treatment.
ITP
Information about idiopathic thrombocytopenic purpura, also called immune thromobocytopenic purpura, including the types, symptoms, diagnosis, and treatment.
Information about idiopathic thrombocytopenic purpura, also called immune thromobocytopenic purpura, including the types, symptoms, diagnosis, and treatment.
Duchenne Muscular Dystrophy
Information about Duchenne muscular dystrophy (DMD) including who gets it, the symptoms, diagnosis, and treatments.
Information about Duchenne muscular dystrophy (DMD) including who gets it, the symptoms, diagnosis, and treatments.
Gastroschisis
Information about gastroschisis, including its symptoms, diagnosis, and treatment.
Information about gastroschisis, including its symptoms, diagnosis, and treatment.
Hereditary Spastic Paraplegia
Article describes hereditary spastic paraplegia, its diagnosis, and treatment.
Article describes hereditary spastic paraplegia, its diagnosis, and treatment.
Aplasia Cutis Congenita
Article describes aplasia cutis congenita, its symptoms, diagnosis, and treatment.
Article describes aplasia cutis congenita, its symptoms, diagnosis, and treatment.
Thalassemia
Article describes the different types of thalassemia, their symptoms, diagnoses, and treatments.
Article describes the different types of thalassemia, their symptoms, diagnoses, and treatments.
Roberts Syndrome
Article describes Roberts syndrome, its symptoms, diagnosis, and treatment.
Article describes Roberts syndrome, its symptoms, diagnosis, and treatment.
Costello Syndrome
Article describes Costello syndrome, its symptoms, diagnosis, and treatment.
Article describes Costello syndrome, its symptoms, diagnosis, and treatment.
Seckel Syndrome
Information about Seckel syndrome, a form of primordial dwarfism, including symptoms, diagnosis, and treatment.
Information about Seckel syndrome, a form of primordial dwarfism, including symptoms, diagnosis, and treatment.
Ehlers-Danlos Syndrome
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
Lafora Disease
Article describes Lafora disease, its symptoms, diagnosis, and treatment, and areas of research about the disease.
Article describes Lafora disease, its symptoms, diagnosis, and treatment, and areas of research about the disease.
Meckel-Gruber Syndrome
Article describes Meckel-Gruber syndrome, also known as Meckel syndrome, its symptoms, diagnosis, and treatment.
Article describes Meckel-Gruber syndrome, also known as Meckel syndrome, its symptoms, diagnosis, and treatment.
Marfan Syndrome
Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.
Information about Marfan syndrome, a connective tissue disorder, including symptoms, diagnosis, and treatment.
Fabry Disease
Information about Fabry disease, a storage disorder, including its symptoms, diagnosis, and treatments.
Information about Fabry disease, a storage disorder, including its symptoms, diagnosis, and treatments.