Types of Rare Diseases

From the lujo virus to POEMS syndrome, there are uncommon diseases about which it can be tough to find reliable information. Learn more about the causes, diagnosis, and treatment of rare diseases.
An unseen person holding a urine sample.
What a Porphyria Urine Sample Measures
Two Genetic Scientists Working in a Laboratory
Causes of a Desmoid Tumor
Surgeon Talking with Patient
Desmoid Tumor Treatment
Radiology technician helping patient
How a Desmoid Tumor Is Diagnosed
Blood sample tube for growth hormone test - stock photo
What Is Acromegaly?
Desmoid Tumor Signs and Symptoms
Symptoms of a Desmoid Tumor
Signs of Werner Syndrome: Person's face with wrinkles (wrinkles and loss of skin firmness), layer of skin (fat loss in upper layers of skin), skin layer (thinning skin), grey hair (hair greying), bald head or balding head (hair loss), discolored and/or distorted nail (distortion and discoloration of nails), skin with discolorations (skin pigmentation issues)
What Is Werner Syndrome?
Desmoid Tumor
What Is a Desmoid Tumor?
Close-up of the hands of an elderly woman taking out a pill from the medicine box - stock photo
Living With Myasthenia Gravis
Multi ethnic female team studying DNA mutations. Virtual touch screens - stock photo
How Myasthenia Gravis Is Diagnosed
Antibodies destroy an infected cell by a virus, immune defense kill the infected cell - stock photo
Hemophagocytic Lymphohistiocytosis (HLH): Overview and More
sarcoid nodules
What Is Sarcoidosis?
Leg Pain
What Is Ribbing Disease?
toddler daughter and father
What Is a Urachal Remnant?
Baby peeking out of crib
What Is Congential Hyperinsulinism?
patient's test results
What Is Susac Syndrome?
Premature baby in ICU
What Is Hypoplastic Left Heart Syndrome?
Black lungs illustrating black lung disease
An Overview of Black Lung Disease
Woman suffering from bad headache or migraine. Appointment with doctor in office room. Sick and unwell lady with stress, trauma or burnout. Young patient in pain holding head with hands.
An Overview of Hypophysitis
Doctor talking to patients
Overview of Fatal Familial Insomnia
Albinism
An Overview of Oculocutaneous Albinism
Erythromelalgia
What Is Erythromelalgia?
Closeup of a woman's ear. The ear is often affected with relapsing polychondritis.
An Overview of Relapsing Polychondritis
Doctor talking with a young female patient and her mother
An Overview of Melkersson Rosenthal Syndrome
Young Boy Playing With the Doctors Stethoscope stock photo
An Overview of Growth Hormone Deficiency in Children
Capillary hemangioma red birthmark on the babys leg
An Overview of Maffucci Syndrome
Carotidynia-neck-pain
An Overview of Carotidynia
Aedes aegypti mosquito
List of Neglected Tropical Diseases
Hopeful woman with hands behind head in sunlight
Morgellons Disease Overview
parotid gland illustration
Frey Syndrome or Gustatory Sweating Overview
Lungs
Research Advances in Idiopathic Pulmonary Fibrosis (IPF)
Mitochondria TEM
MELAS Syndrome Symptoms and Treatment
woman collapsed in fatigue
Granulomatosis With Polyangiitis: A Rare Autoimmune Disorder
Genetics-Liam-Norris.jpg
The Most Common Types of Dwarfism
Illustrated portraite of Joseph Merrick
The Joseph Merrick Story
A young girl playing the piano
Is Rain Man Syndrome Real?
Doctor and nurse examining baby in doctor's office
Hurler Syndrome (MPS I Disease) Symptoms and Treatment
Quarantine officers attend an exercise to prevent Ebola virus at Zhangjiajie Hehua International Airport.
What Is Bubonic Plague?
Large bruise on a woman's knee
What Is Idiopathic Thrombocytopenic Purpura (ITP)?
Older man with doctor
Learn About Multiple System Atrophy
Doctor checking a newborn
Overview of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
An older woman holding her hand in pain
An Overview of Proteus Syndrome
Senior African American couple, man in wheelchair
Progressive Supranuclear Palsy Overview
Woman with abdominal pain
Fitz-Hugh-Curtis Syndrome Symptoms and Diagnosis
man being examined with stethescope
Alternative Treatments for Pulmonary Fibrosis
woman looking in mirror
What Is Myasthenia Gravis?
Doctor reviewing x-ray
Granuloma Symptoms and Related Conditions
E. coli bacteria, SEM
How to Protect Yourself From Hamburger Disease
Droplets of mercury
An Overview of Minamata Disease
Man sitting in a boardroom with a unrecognizable face
Prosopagnosia Causes and Treatment
A view of the Chernobyl power plant
Children of Chernobyl: Birth Defects, Deformities, Ailments
baby foot
What Is Arthrogryposis?
Krabbe's leukodystrophy
The Symptoms, Diagnosis, and Treatment of Krabbe Disease
Newborn baby boy
How to Diagnose and Treat Aplasia Cutis Congenita
I should have totally gotten that flu shot
Symptoms of Toxic Epidermal Necrolysis (TEN)
Two doctors talking about an x-ray of a human lung
The Symptoms and Treatment of Hemosiderosis
Woman taking supplements
What Is Eosinophilia-Myalgia Syndrome?
Scientist with pipette loading DNA gels in laboratory
Zellweger Syndrome Symptoms and Prognosis
Histiocytic necrotizing lymphadenitis
Symptoms and Treatment of Kikuchi Disease
First Minutes With Newborn
What Is Diamond Blackfan Anemia?

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Genetic Disorders