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.

MMA-HCU-newborn-screening

Methylmalonic Acidemia With Homocystinuria: Symptoms, Causes, and Treatment

Medically reviewed by Cristian Zanartu, MD

Ribbing Disease: Overview and More

Medically reviewed by Elizabeth Molina Ortiz, MD, MPH

toddler daughter and father

What Is an Urachal Remnant?

Medically reviewed by Jonathan B. Jassey, DO

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

Pituitary gland in the brain

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

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

Two girls happily jumping on the bed

An Overview of Growth Hormone Deficiency in Children

Medically reviewed by Rony Kampalath, MD

Hemangioma on an infant's 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

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

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 Richard N. Fogoros, 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

By Mary Kugler, RN

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

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

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

By Mary Kugler, RN

Leprosy patient's hands

Facts About Leprosy (Hansen's Disease)

Medically reviewed by Anita Sadaty, MD

inclusion body myositis

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

Yaws: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Jason DelCollo, DO

OCP project employee collecting adult black flies, the vector for river blindness.

River Blindness: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Andy Miller, MD

Close-up of a crying baby

An Overview of Cri du Chat Syndrome

Medically reviewed by Keri Peterson, MD

Nerve fibres, light micrograph

An Overview of Adrenoleukodystrophy (ALD)

Medically reviewed by Diana Apetauerova, MD

Doctor checking crying baby heartbeat on bed

Lissencephaly Symptoms, Causes, and Treatment

Medically reviewed by Sarah Rahal, MD

Essential Thrombocythemia and Abnormal Blood Clotting

Medically reviewed by Caitilin Kelly, MD

Mid adult woman with headache

Deadly Mad Cow Disease in Humans

Medically reviewed by Diana Apetauerova, MD

Hands applying electrodes to baby for electroencephalography

An Overview of West Syndrome

Medically reviewed by Claudia Chaves, MD

School children (8-9) with female teacher during class

Sarcoidosis: Overview and More

Medically reviewed by Caitilin Kelly, MD

Close up of woman's eye.

Cat Eye Syndrome Symptoms and Causes

Medically reviewed by Johnstone M. Kim, MD

Side View Of Man Sitting On Rocks Against Sky

Overview of Primordial Dwarfism

Medically reviewed by Brian Levine, MD

Man clutching thigh in pain

Stiff Person Syndrome Symptoms, Diagnosis and Treatment

Medically reviewed by Claudia Chaves, MD

Nurses monitoring baby in incubator

VACTERL Association and Birth Defects

Medically reviewed by Elizabeth Molina Ortiz, MD, MPH

Blood vessel with blood cells, illustration

An Overview of Klippel-Trenaunay-Weber Syndrome

By Mary Kugler, RN

Nurse taking blood from patient in hospital

Aplastic Anemia: Causes, Symptoms, Diagnosis, Treatment

Medically reviewed by Douglas A. Nelson, MD

father with ill son sleeping in hospital

Batten Disease Symptoms, Diagnosis, and Treatment

Medically reviewed by Diana Apetauerova, MD

Woman lying on bed, covering face with arm

Vogt-Koyanagi-Harada Syndrome

Medically reviewed by Caitilin Kelly, MD

Female doctor examining newborn baby in incubator

What Is Gastroschisis and How Is it Treated?

Medically reviewed by Chris Vincent, MD

Scientist at microscope examining blood sample test tube

Paroxysmal Nocturnal Hemoglobinuria: Overview and More

Medically reviewed by Isaac O. Opole, MD, PhD

Sick girl in bed comforted by mother

Description of Reye's Syndrome

Medically reviewed by Sarah Rahal, MD

Mother holding her baby hand

Costello Syndrome Symptoms and Treatment

Medically reviewed by Cristian Zanartu, MD

Doctor palpating a patients Lymph Nodes

Lymphangiomatosis and the Lymph System

Medically reviewed by Keri Peterson, MD

Stephen Hawking

Amyotrophic Lateral Sclerosis (ALS) Disorder Info

Medically reviewed by Shaheen Lakhan, MD, PhD

Mother taking care of sick 6 year old child

Munchausen Syndrome by Proxy Overview

Medically reviewed by Carly Snyder, MD

Lorenzo Odone's Life and Disease

Medically reviewed by Sarah Rahal, MD

Diagram of Heart

Transposition of the Great Arteries: Overview and More

Medically reviewed by Richard N. Fogoros, MD

A newborn baby sleeps in an infant incubator.

Timothy Syndrome: Overview and more

Medically reviewed by Richard N. Fogoros, MD

Giant Robert Wadlow with Actresses

Acromegaly Symptoms and Treatment

Medically reviewed by Lindsey Waldman, MD, RD

Woman With Leg Cramps

Antiphospholipid Syndrome: Overview and More

By Mary Kugler, RN

Treacher Collins syndrome

Treacher Collins Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping

Medically reviewed by Jason DelCollo, DO

Exhausted girl using paper waver, suffering from hot summer weather.

Serotonin Syndrome: Overview and More

Medically reviewed by Jenny Sweigard, MD

Hookworm: Symptoms, Causes, Diagnosis, and Treatment

Medically reviewed by Andy Miller, MD

Newborn jejunal atresia

Jejunal Atresia: Symptoms, Causes, Diagnosis, Treatment

Medically reviewed by Anita C. Chandrasekaran, MD, MPH