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.
Baby peeking out of crib
Congenital Hyperinsulinism: Overview and More
Medically reviewed by Jonathan B. Jassey, DO
patient's test results
Susac Syndrome: Overview and More
Medically reviewed by Jenny Sweigard, MD
Premature baby in ICU
Hypoplastic Left Heart Syndrome: Overview and More
Medically reviewed by Jonathan B. Jassey, DO
Black lungs illustrating black lung disease
Black Lung Disease: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Cristian Zanartu, MD
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.
Hypophysitis: Symptoms, Causes, Diagnosis, & Treatment
Medically reviewed by Lindsey Waldman, MD, RD
Doctor talking to patients
Fatal Familial Insomnia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Kashif J. Piracha, MD
Albinism
Oculocutaneous Albinism: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Casey Gallagher, MD
Erythromelalgia
Erythromelalgia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Elizabeth Molina Ortiz, MD, MPH
Closeup of a woman's ear. The ear is often affected with relapsing polychondritis.
Relapsing Polychondritis: Symptoms, Causes, Diagnosis, Treatment
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Doctor talking with a young female patient and her mother
Melkersson Rosenthal Syndrome: Symptoms and Treatment
Medically reviewed by Claudia Chaves, MD
Young Boy Playing With the Doctors Stethoscope stock photo
An Overview of Growth Hormone Deficiency in Children
Medically reviewed by Rony Kampalath, MD
Capillary hemangioma red birthmark on the babys leg
Maffucci Syndrome: Symptoms, Diagnosis, Treatment
Medically reviewed by Jason DelCollo, DO
Carotidynia-neck-pain
Carotidynia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Kashif J. Piracha, MD
Aedes aegypti mosquito
List of Neglected Tropical Diseases
Medically reviewed by Jason DelCollo, DO
Hopeful woman with hands behind head in sunlight
What to Know About Morgellons Disease
Medically reviewed by Richard N. Fogoros, MD
parotid gland illustration
Frey Syndrome or Gustatory Sweating Overview
Medically reviewed by Nicholas R. Metrus, MD
Lungs
Research Advances in Idiopathic Pulmonary Fibrosis (IPF)
Medically reviewed by Lauren Schlanger, MD
Mitochondria TEM
MELAS Syndrome Symptoms and Treatment
Medically reviewed by Claudia Chaves, MD
woman collapsed in fatigue
Diagnosing and Treating Granulomatosis with Polyangiitis
Medically reviewed by Jason DelCollo, DO
Genetics-Liam-Norris.jpg
Most Common Types of Dwarfism
Medically reviewed by Sarah Rahal, MD
Illustrated portraite of Joseph Merrick
Learn About The Elephant Man, Joseph Merrick
Fact checked by Sheeren Jegtvig
A young girl playing the piano
Is Rain Man Syndrome Real?
Medically reviewed by Rochelle Collins, DO
Doctor and nurse examining baby in doctor's office
Hurler Syndrome (MPS I Disease) Symptoms and Treatment
Medically reviewed by Kashif J. Piracha, MD
Quarantine officers attend an exercise to prevent Ebola virus at Zhangjiajie Hehua International Airport.
Bubonic Plague: Overview and More
Medically reviewed by Rochelle Collins, DO
Large bruise on a woman's knee
ITP: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Isaac O. Opole, MD, PhD
Older man with doctor
Learn About Multiple System Atrophy
Medically reviewed by Diana Apetauerova, MD
Doctor checking a newborn
MMIHS: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Richard N. Fogoros, MD
An older woman holding her hand in pain
An Overview of Proteus Syndrome
Medically reviewed by Rochelle Collins, DO
Baby getting an ultrasound
Congenital Defect Prune Belly Syndrome in Babies
Medically reviewed by Rochelle Collins, DO
Senior African American couple, man in wheelchair
What Is Progressive Supranuclear Palsy?
Medically reviewed by Claudia Chaves, MD
Woman with abdominal pain
Fitz Hugh Curtis Syndrome Symptoms and Diagnosis
Medically reviewed by Rochelle Collins, DO
man being examined with stethescope
Pulmonary Fibrosis Alternative Medicine Treatment
Medically reviewed by Sanja Jelic, MD
woman looking in mirror
Myasthenia Gravis: Overview and More
Medically reviewed by Diana Apetauerova, MD
Doctor reviewing x-ray
Granuloma Symptoms and Related Conditions
Medically reviewed by Jason DelCollo, DO
E. coli bacteria, SEM
How to Protect Yourself From Hamburger Disease
Medically reviewed by Andy Miller, MD
Droplets of mercury
The Minamata Disaster and the Disease That Followed
Medically reviewed by Michael Menna, DO
Man sitting in a boardroom with a unrecognizable face
Prosopagnosia Causes and Treatment
Medically reviewed by Carly Snyder, MD
sleeping baby
Congenital Central Hypoventilation Syndrome
Medically reviewed by Brian Levine, MD
doctor examining a female patient's neck
An Overview of Scleredema: Hardening of the Skin
Medically reviewed by Leah Ansell, MD
Man with Leg Brace
What Is Charcot-Marie-Tooth Disease?
Medically reviewed by Shaheen Lakhan, MD, PhD
A view of the Chernobyl power plant
Health Issues Faced by the Children of Chernobyl
Fact checked by James Lacy
baby foot
Arthrogryposis Multiplex Congenita Causes and Treatment
Medically reviewed by Kashif J. Piracha, MD
Krabbe's leukodystrophy
Krabbe Disease Symptoms and Treatment
Medically reviewed by Claudia Chaves, MD
Newborn baby boy
Aplasia Cutis Congenita Symptoms and Treatment
Medically reviewed by Casey Gallagher, MD
I should have totally gotten that flu shot
Toxic Epidermal Necrolysis (TEN)
Medically reviewed by Casey Gallagher, MD
Two doctors talking about an x-ray of a human lung
Hemosiderosis Symptoms and Treatment
Medically reviewed by Keri Peterson, MD
Woman taking supplements
Eosinophilia-Myalgia Syndrome Symptoms and Treatment
Medically reviewed by Rochelle Collins, DO
Scientist with pipette loading DNA gels in laboratory
Zellweger Syndrome Causes and Symptoms
Medically reviewed by Jason DelCollo, DO
Histiocytic necrotizing lymphadenitis
Kikuchi Disease Symptoms and Treatment
Medically reviewed by Isaac O. Opole, MD, PhD
First Minutes With Newborn
Diamond Blackfan Anemia: Overview and More
Medically reviewed by Chris Vincent, MD
a woman sitting down and holding her foot
Overview of Reflex Sympathetic Dystrophy (RSD)
Medically reviewed by Keri Peterson, MD
Woman giving mother bouquet of flowers in hospital
Goodpasture Syndrome: Disease of the Lungs and Kidneys
Medically reviewed by Kashif J. Piracha, MD
pseudoachondroplasia
Pseudoachondroplasia: Symptoms, Causes, and Diagnosis
Medically reviewed by Kashif J. Piracha, MD
A doctor examining a newborn baby in an incubator
An Overview of Propionic Acidemia
Medically reviewed by Cristian Zanartu, MD
illustration of cranial nerves
Moebius Syndrome: Symptoms, Causes, and Treatment
Medically reviewed by Caitilin Kelly, MD
doctor looking at brain CT scan
Hypopituitarism: Symptoms, Causes, Diagnosis, Treatment
Medically reviewed by Do-Eun Lee, MD
Leprosy patient's hands
Facts About Leprosy (Hansen's Disease)
Medically reviewed by Anita Sadaty, MD
We'll take it slow so you don't get hurt
An Overview of Inclusion Body Myositis
Medically reviewed by Rochelle Collins, DO
Parry Romberg Syndrome
Parry Romberg Syndrome: Symptoms, Causes, and Treatment
Medically reviewed by Caitilin Kelly, MD
Treponema
Yaws: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Jason DelCollo, DO