Rare Diseases: Most Popular Articles
These articles are the most popular over the last month.
Trisomy 18 (Edwards Syndrome)
Article describes Trisomy 18, its symptoms, diagnosis, and treatment.
Article describes Trisomy 18, its symptoms, diagnosis, and treatment.
ALD and Lorenzo's Oil
Article describes adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
Article describes adrenoleukodystrophy (ALD), its symptoms, diagnosis, and treatment, and the movie Lorenzo's Oil.
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.
Mycosis Fungoides
Article describes mycosis fungoides, its symptoms, diagnosis, and treatment.
Article describes mycosis fungoides, its symptoms, diagnosis, and treatment.
Leprosy (Hansen's Disease)
Article describes leprosy, its symptoms, and treatment.
Article describes leprosy, its symptoms, and treatment.
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.
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.
Turner Syndrome
Article describes Turner syndrome, its diagnosis, and treatment.
Article describes Turner syndrome, its diagnosis, and treatment.
Bubonic Plague
Article describes bubonic plague, its symptoms, diagnosis, and treatment.
Article describes bubonic plague, its symptoms, diagnosis, and treatment.
Wolf-Hirschhorn Syndrome
Article describes Wolf-Hirschhorn syndrome, its symptoms, diagnosis, and treatment.
Article describes Wolf-Hirschhorn syndrome, 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.
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.
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.
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.
Polycythemia Vera
Article describes polycythemia vera, its symptoms, diagnosis, and treatment.
Article describes polycythemia vera, its symptoms, diagnosis, and treatment.
Blackfan Diamond Anemia
Article describes Blackfan Diamond anemia, its symptoms, diagnosis, and treatment.
Article describes Blackfan Diamond anemia, 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.
Kawasaki Disease
Information about Kawasaki disease, its symptoms, diagnosis, and treatment.
Information about Kawasaki disease, 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.
Article describes glioma, a type of brain cancer, its symptoms, diagnosis, treatment, and areas of research regarding 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.
Hidradenitis Suppurativa
Article describes hidradenitis suppurativa, its symptoms, and treatment.
Article describes hidradenitis suppurativa, its symptoms, 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.
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.
Arthrogryposis
Article describes arthrogryposis, its diagnosis, and treatment.
Article describes arthrogryposis, its diagnosis, and treatment.
Spina Bifida
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
Information about the types of spina bifida, symptoms, diagnosis, and treatment.
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."
Antiphospholipid Syndrome
Article describes antiphopholipid syndrome, its symptoms, diagnosis, and treatment.
Article describes antiphopholipid syndrome, its symptoms, diagnosis, and treatment.
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.
Prader-Willi Syndrome
Article describes Prader-Willi syndrome, its symptoms, diagnosis, and treatment.
Article describes Prader-Willi syndrome, its symptoms, diagnosis, and treatment.
Hemosiderosis
Article describes hemosiderosis, its symptoms, and treatment.
Article describes hemosiderosis, its symptoms, and treatment.
Williams Syndrome
Article describes Williams syndrome, its symptoms, diagnosis, and treatment.
Article describes Williams syndrome, its symptoms, diagnosis, and treatment.
Essential Thrombocythemia
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
Article describes essential thrombocythemia, its symptoms, diagnosis, and treatment.
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.
What is Celiac Disease?
Article describes celiac disease, its symptoms, diagnosis, and treatment.
Article describes celiac disease, its symptoms, diagnosis, and treatment.
Reflex Sympathetic Dystrophy
Article describes reflex sympathetic dystrophy, its symptoms, diagnosis, and treatment, and provides links to information and resources.
Article describes reflex sympathetic dystrophy, its symptoms, diagnosis, and treatment, and provides links to information and resources.
Cornelia de Lange Syndrome
Article describes Cornelia de Lange syndrome, its diagnosis, and treatment.
Article describes Cornelia de Lange syndrome, its 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.
Peyronie's Disease
Article describes Peyronie's disease, its diagnosis, and treatment.
Article describes Peyronie's disease, its diagnosis, and treatment.
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.
Kearns Sayre Syndrome
Article describes Kearns Sayre syndrome, its symptoms, diagnosis, and treatment.
Article describes Kearns Sayre syndrome, its symptoms, diagnosis, and treatment.
Lincoln and Marfan Syndrome
Feature article about Marfan syndrome, and the debate about whether U.S. President Abraham Lincoln had the disorder.
Feature article about Marfan syndrome, and the debate about whether U.S. President Abraham Lincoln had the disorder.
Mitochondrial Disease
Article describes mitochondrial disease, its symptoms, and treatments.
Article describes mitochondrial disease, its symptoms, and treatments.
Kikuchi Disease
Article describes Kikuchi disease, its symptoms, diagnosis, and treatment.
Article describes Kikuchi 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.
Article describes what an orphan drug is, and how the United States and European Union governments support orphan drug research and development.
Sickle Cell Anemia Treatments
Article explains sickle cell anemia treatments being investigated through research.
Article explains sickle cell anemia treatments being investigated through research.
Angelman Syndrome
Article describes Angelman syndrome, its symptoms, diagnosis, and treatment.
Article describes Angelman syndrome, its symptoms, 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.
Castleman Disease
Article describes Castleman disease, its types, its symptoms, diagnosis, and treatment.
Article describes Castleman disease, its types, its symptoms, diagnosis, and treatment.
Churg Strauss Syndrome
Article describes Churg Strauss syndrome, its symptoms, diagnosis, and treatment.
Article describes Churg Strauss syndrome, its symptoms, diagnosis, and treatment.
EF & EMS
Article describes eosinophilic fasciitis and eosinophilia-myalgia syndrome, their symptoms, diagnoses, and treatments.
Article describes eosinophilic fasciitis and eosinophilia-myalgia syndrome, their symptoms, diagnoses, and treatments.
Poland Syndrome
Article describes Poland syndrome, its symptoms, diagnosis, and treatment.
Article describes Poland syndrome, its symptoms, diagnosis, and treatment.
Tolosa-Hunt Syndrome
Article describes Tolosa-Hunt syndrome, its symptoms, diagnosis, and treatment.
Article describes Tolosa-Hunt syndrome, its symptoms, diagnosis, and treatment.
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.
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.
Ramsay Hunt Syndromes
Information about Ramsay Hunt syndrome Type I and herpes zoster oticus (Ramsay Hunt syndrome Type II), their symptoms, diagnosis, and treatments.
Information about Ramsay Hunt syndrome Type I and herpes zoster oticus (Ramsay Hunt syndrome Type II), their symptoms, diagnosis, and treatments.
Parkinson's Disease
Article describes Parkinson's disease, its possible causes, and treatments.
Article describes Parkinson's disease, its possible causes, 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.
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.
Idiopathic Myelofibrosis
Information about idiopathic myelofibrosis, also known as agnogenic myeloid metaplasia, including symptoms, diagnosis and treatment.
Information about idiopathic myelofibrosis, also known as agnogenic myeloid metaplasia, including symptoms, 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.
POEMS Syndrome
Information about POEMS syndrome, its symptoms, diagnosis, and treatment.
Information about POEMS syndrome, 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.
Huntington Disease
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
Article describes Huntington disease, its symptoms, diagnosis, treatment, and research.
Holt-Oram Syndrome
Article describes Holt-Oram syndrome, its symptoms, diagnosis, and treatment.
Article describes Holt-Oram syndrome, 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.
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.
Opsoclonus-Myoclonus Syndrome
Article describes opsoclonus-myoclonus syndrome, its symptoms, diagnosis, and treatment.
Article describes opsoclonus-myoclonus syndrome, its symptoms, diagnosis, and treatment.
Amyotrophic Lateral Sclerosis
Article describes amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, its symptoms, diagnosis, and treatment.
Article describes amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's 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.
Horner Syndrome
Article describes Horner syndrome, its symptoms, diagnosis, and treatment.
Article describes Horner syndrome, its symptoms, diagnosis, and treatment.
Primordial Dwarfism
Article describes primordial dwarfism, its symptoms, diagnosis, and treatment.
Article describes primordial dwarfism, its symptoms, diagnosis, and treatment.
Autoimmune Inner Ear Disease
Article describes autoimmune inner ear disease and its treatments, including cochlear implants.
Article describes autoimmune inner ear disease and its treatments, including cochlear implants.
Dermatomyositis
Article describes dermatomyositis, its symptoms, diagnosis, and treatment.
Article describes dermatomyositis, its symptoms, diagnosis, and treatment.
Kartagener Syndrome
Article describes Kartagener syndrome, its symptoms, diagnosis, and treatment.
Article describes Kartagener syndrome, its symptoms, diagnosis, and treatment.
Primary Lateral Sclerosis
Article describes primary lateral sclerosis (PLS), its symptoms, diagnosis, and treatment.
Article describes primary lateral sclerosis (PLS), its symptoms, 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.
Ehlers-Danlos Syndrome
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
Article describes Ehlers-Danlos syndrome, its diagnosis, and treatment.
Toms River Cancer Cluster
Feature article on the Toms River, NJ, cancer cluster.
Feature article on the Toms River, NJ, cancer cluster.
Munchausen Syndrome
Article describes Munchausen syndrome by proxy, its diagnosis, effects, and treatment.
Article describes Munchausen syndrome by proxy, its diagnosis, effects, and treatment.
Progeria Syndromes
Article describes the progeria syndromes, their symptoms, and possible causes.
Article describes the progeria syndromes, their symptoms, and possible causes.
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.
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.
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.
Smith-Lemli-Opitz Syndrome
Article describes Smith-Lemli-Opitz syndrome, its symptoms, diagnosis, and treatment.
Article describes Smith-Lemli-Opitz syndrome, its symptoms, diagnosis, and treatment.
CCHS
Article describes congenital central hypoventilation syndrome (formerly known as Ondine curse), its symptoms, diagnosis, and treatment.
Article describes congenital central hypoventilation syndrome (formerly known as Ondine curse), its symptoms, diagnosis, and treatment.
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.
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.
DiGeorge Syndrome
Article describes DiGeorge syndrome, its symptoms, and treatment.
Article describes DiGeorge syndrome, its symptoms, 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.
Aplastic Anemia
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.
Article describes aplastic anemia, its symptoms, diagnosis, and treatment.
Tuberous Sclerosis Complex
Article describes tuberous sclerosis, its diagnosis, and treatment.
Article describes tuberous sclerosis, its diagnosis, and treatment.
Dystonia and Botox Injections
Article describes dystonia, its symptoms, and treatment including the use of Botox injections.
Article describes dystonia, its symptoms, and treatment including the use of Botox injections.
Addison's Disease
Article describes Addison's disease, its diagnosis, and treatment.
Article describes Addison's disease, its diagnosis, and treatment.
Retroperitoneal Fibrosis
Article describes retroperitoneal fibrosis, its symptoms, diagnosis, and treatment.
Article describes retroperitoneal fibrosis, its symptoms, 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.
Niemann-Pick Disease
Article describes the types of Niemann-Pick diseases, their treatments, and ongoing research.
Article describes the types of Niemann-Pick diseases, their treatments, and ongoing research.
Charcot-Marie-Tooth Disease
Feature article describes the Charcot-Marie-Tooth diseases, their diagnoses, and treatments.
Feature article describes the Charcot-Marie-Tooth diseases, their diagnoses, and treatments.
SCID
Information about severe combined immunodeficiency (SCID), also known as bubble boy disease, its symptoms, diagnosis, and treatment, including gene therapy.
Information about severe combined immunodeficiency (SCID), also known as bubble boy disease, its symptoms, diagnosis, and treatment, including gene therapy.
Waardenburg Syndrome
Article describes Waardenburg syndrome, its symptoms, diagnosis, and treatment.
Article describes Waardenburg syndrome, its symptoms, diagnosis, and treatment.
Jeune Syndrome
Article describes Jeune syndrome (asphyxiating thoracic dystrophy), its symptoms, diagnosis, and treatment.
Article describes Jeune syndrome (asphyxiating thoracic dystrophy), its symptoms, diagnosis, and treatment.
Parry Romberg Syndrome
Article describes Parry Romberg syndrome, its symptoms, diagnosis, and treatment.
Article describes Parry Romberg syndrome, 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.
Costello Syndrome
Article describes Costello syndrome, its symptoms, diagnosis, and treatment.
Article describes Costello syndrome, its symptoms, diagnosis, and treatment.
Sickle Cell Anemia
Article describes sickle cell anemia, its symptoms, diagnosis, and treatment.
Article describes sickle cell anemia, its symptoms, diagnosis, and treatment.
Osteogenesis Imperfecta
Article describes osteogenesis imperfecta, its symptoms, diagnosis, and treatment.
Article describes osteogenesis imperfecta, its symptoms, diagnosis, and treatment.
Deep Brain Stimulation
Article describes deep brain stimulation for treatment of Parkinson's disease, dystonia, and essential tremor.
Article describes deep brain stimulation for treatment of Parkinson's disease, dystonia, and essential tremor.
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.
Hereditary Spastic Paraplegia
Article describes hereditary spastic paraplegia, its diagnosis, and treatment.
Article describes hereditary spastic paraplegia, its diagnosis, and treatment.
Apert Syndrome
Feature article describes Apert syndrome, its symptoms, diagnosis, and treatment.
Feature article describes Apert syndrome, its symptoms, diagnosis, and treatment.
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.
MELAS Syndrome
Article describes MELAS syndrome, its symptoms, diagnosis, and treatment.
Article describes MELAS syndrome, its symptoms, diagnosis, and treatment.
Hypomelanosis of Ito
Article describes hypomelanosis of Ito, its symptoms, diagnosis, and treatment.
Article describes hypomelanosis of Ito, its symptoms, diagnosis, and treatment.
Moebius Syndrome
Article describes Moebius syndrome, its symptoms, and treatment.
Article describes Moebius syndrome, its symptoms, 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.
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.
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.
Rare Heart Condition Can Be...
Article describes aortic dissection, its causes, diagnosis, and treatment.
Article describes aortic dissection, its causes, diagnosis, and treatment.
Budd-Chiari Syndrome
Article describes Budd-Chiari syndrome, its symptoms, diagnosis, and treatment.
Article describes Budd-Chiari syndrome, its symptoms, diagnosis, and treatment.
Loeys-Dietz Syndrome
Information about Loeys-Dietz syndrome, its symptoms, diagnosis, and treatment.
Information about Loeys-Dietz syndrome, its symptoms, diagnosis, and treatment.
PNH
Article describes paroxysmal nocturnal hemoglobinuria, its symptoms, diagnosis, treatment, and ongoing research.
Article describes paroxysmal nocturnal hemoglobinuria, its symptoms, diagnosis, treatment, and ongoing research.
Menkes Disease
Article describes Menkes kinky hair disease, its symptoms, diagnosis, and treatment.
Article describes Menkes kinky hair disease, its symptoms, diagnosis, and treatment.
Zellweger Syndrome
Article describes Zellweger syndrome, its symptoms, diagnosis, and treatment.
Article describes Zellweger syndrome, its symptoms, diagnosis, and treatment.
Rare Diseases: Basic Info
Rare diseases basic information and FAQs.
Rare diseases basic information and FAQs.
Roberts Syndrome
Article describes Roberts syndrome, its symptoms, diagnosis, and treatment.
Article describes Roberts syndrome, its symptoms, diagnosis, and treatment.
Osteopetrosis
Article describes osteopetrosis, its symptoms, diagnosis, and treatment.
Article describes osteopetrosis, 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.
Abetalipoproteinemia
Article describes abetalipoproteinemia, its diagnosis, and treatment.
Article describes abetalipoproteinemia, its diagnosis, and treatment.
Fragile X Syndrome
Article describes Fragile X syndrome, its symptoms, diagnosis, and treatment.
Article describes Fragile X syndrome, its symptoms, diagnosis, and treatment.
Dyskeratosis Congenita
Information about dyskeratosis congenita including its symptoms, diagnosis, and treatment, and research about the disorder.
Information about dyskeratosis congenita including its symptoms, diagnosis, and treatment, and research about the disorder.
Eisenmenger syndrome
Information about Eisenmenger syndrome, including its symptoms, diagnosis, and treatment.
Information about Eisenmenger syndrome, including its symptoms, diagnosis, and treatment.
Kennedy Disease
Article describes Kennedy disease, also known as spinal bulbar muscular atrophy, its symptoms, diagnosis, and treatment.
Article describes Kennedy disease, also known as spinal bulbar muscular atrophy, its 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.
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.
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.
Batten Disease
Article describes Batten disease, its symptoms, diagnosis, and treatment.
Article describes Batten disease, 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.
Lissencephaly
Article describes lissencephaly, its symptoms, diagnosis, and treatment.
Article describes lissencephaly, its symptoms, diagnosis, and treatment.
Noonan Syndrome
Article describes Noonan syndrome, its symptoms, diagnosis, and treatment.
Article describes Noonan syndrome, its symptoms, diagnosis, and treatment.
Gastroschisis
Article describes gastroschisis, its symptoms, diagnosis, and treatment.
Article describes gastroschisis, its symptoms, diagnosis, and treatment.
Malignant Melanoma Treatments
Article looks at treatments being researched for malignant melanoma (skin cancer).
Article looks at treatments being researched for malignant melanoma (skin cancer).
Nipah Virus
Article describes Nipah virus, its symptoms, diagnosis, and treatment, and describes outbreaks of the virus that have occurred.
Article describes Nipah virus, its symptoms, diagnosis, and treatment, and describes outbreaks of the virus that have occurred.
Tyrosinemia Type I
Article describes tyrosinemia type I, its symptoms, diagnosis, and treatment.
Article describes tyrosinemia type I, 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.
Scleredema
Article describes scleredema, its symptoms, diagnosis, and treatment.
Article describes scleredema, its symptoms, diagnosis, and treatment.
Timothy Syndrome
Information about Timothy syndrome, its symptoms, diagnosis, and treatment.
Information about Timothy syndrome, its symptoms, diagnosis, and treatment.
Cystinuria
Article describes cystinuria, its symptoms, diagnosis, and treatment.
Article describes cystinuria, 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.
Specialty Foods Sites
Web sites offering foods for special diets, such as gluten-free, casein-free, or multiple food allergies.
Web sites offering foods for special diets, such as gluten-free, casein-free, or multiple food allergies.
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.