Rare Diseases

It can be difficult to receive a diagnosis for a rare disease. As with any other condition, staying informed and working with your healthcare team can help you prepare for whatever ails you.

Explore Rare Diseases

A masked lab worker in scrubs performing a blood test.
What to Know About Treatment for Paroxysmal Nocturnal Hemoglobinuria
Hands of operating room staff performing surgery
How Von Hippel-Lindau Disease Is Treated
Woman receives IV infusion with assistance from nurse in blue scrubs.
How Is Common Variable Immunodeficiency Treated?
Cropped shot of a young man suffering with flu while sitting wrapped in a blanket on the sofa at home
Common Variable Immunodeficiency: Overview and More
An older adult lying in a hospital bed in a sunny room.
What Are The 5 Stages of Huntington's Disease?
Close up of doctors analysing radiological chest x-ray film - stock photo
Pulmonary Fibrosis: Causes and Risk Factors
Factory worker working with dangerous materials
How Is Radiation Sickness Treated?
Black wife comforting husband in hospital
How an Insulinoma Is Treated
African American doctor talking to patient in office
Symptoms of Insulinoma
Smiling female doctor talking to woman in hospital
Causes and Risk Factors of Insulinoma
Shot of a young doctor using a digital tablet during a consultation with a senior woman
How Insulinoma Is Diagnosed
DNA molecule illustration
Common Variable Immunodeficiency: Causes and Risk Factors
Close up of a doctor doing a medical exam while both he and the patient are wearing protective masks
How Common Variable Immunodeficiency Is Diagnosed
ill woman with the flu blowing her nose
Common Variable Immunodeficiency: Signs and Symptoms
Nurse prepares to give boy a shot
What You Need to Know About Strensiq for Hypophosphatasia
Medical illustration of pancreas highlighted in female body
Insulinoma: Overview and More
cropped shot of a woman scratching her arm
Can a Nickel Allergy Cause an Autoimmune Disease?
Radiologist examines spine x-ray
Symptoms of Chordoma
Illustration shows white blood cells being transported in the blood
Autoinflammatory vs. Autoimmune: Dysfunction in Different Immune Systems
Doctor giving injection to girl in office
How Pediatric Growth Hormone Deficiency Is Treated
Schoolboy (4-5) sitting by desk in classroom
Pediatric Growth Hormone Deficiency: Coping, Support, Living Well
Black doctor examining girl
How Pediatric Growth Hormone Deficiency Is Diagnosed
Nurse measuring height of girl
Causes and Risk Factors of Pediatric Growth Hormone Deficiency
autoimmune blood
Blood Tests for Autoimmune Diseases
A doctor examines a patient's hand
Autoimmune Diseases That Can Be Fatal
Test tubes featuring labels listing Lupus.
Types of Autoimmune Diseases
Doctor measuring girls height while family sitting at clinic
Symptoms of Pediatric Growth Hormone Deficiency
Close up of a pediatrician having a check up on his patient
What Is Pediatric Growth Hormone Deficiency?
Female doctor discussing with patient in medical room at hospital
What Type of Doctor Treats Autoimmune Diseases?
autoimmune disease
Immune System Disorders: Types and Triggers
sarcoid nodules
What Is Sarcoidosis?
Doctor viewing brain scans
Causes and Treatment of Chiari Malformations
Making sure she grows into a heathy and strong princess
What Is Esophageal Atresia?
Vasculitis
Behcet's Disease Causes Blood Vessel Inflammation
omphalocele
An Overview of Omphalocele
Genetic test results on a computer screen
Discover the Many Ways That RNAi Therapy Is Used
fibrodysplasia-ossificans-progressiva-child-x-ray
What Is Fibrodysplasia Ossificans Progressiva?
Woman receiving injection
Explore the Reasons Why an Aldosterone Test Is Used
A urachal cyst infection most commonly is seen in toddlers
Urachal Cyst: Symptoms, Causes, Diagnosis, Treatment
Osteomyelitis
Everything You Need to Know About Osteomyelitis
Newborn with Mom in NICU
Ins and Outs of a Rare Genetic Condition: Nonketotic Hyperglycinemia
Fatigued after exercise
An Overview of Addison’s Disease
Nurse taking blood from patient in hospital
What You Should Know About the Dexamethasone Suppression Test
Child getting exam for Perthes disease
Perthes Disease: Symptoms, Causes, Diagnosis, and Treatment
rear view of a girl at poolside
An Overview of Erythropoietic Protoporphyria
Female Scientist in Lab
What Genomic Testing Can Tell You About Health Risks
An older woman holding her hand in pain
The Symptoms, Causes, and Treatment of Proteus Syndrome
scientific research in lab
How Research and Development for Rare Diseases Is Incentivized
DNA Research, DNA test results on a computer screen in the laboratory with a tray of samples in the foreground
What to Know About Fabry Disease
Baby test
What You Should Know About Dravet Syndrome
Parents cradling newborn baby
What Is Beckwith-Wiedemann Syndrome?
Woman giving mother bouquet of flowers in hospital
The Scoop on Goodpasture Syndrome, a Disease of the Lungs and Kidneys
Gilbert Syndrome
Gilbert Syndrome: Symptoms, Causes, and Treatment
Phelan-McDermid Syndrome
Phelan-McDermid Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Myotonia Congenita
An Overview of Myotonia Congenita
A doctor examining a newborn baby in an incubator
Discover the Overview of Propionic Acidemia
Science - Ophthalmologist
Kearns-Sayre Syndrome Can Be a Rare Cause of Eye Problems
illustration of cranial nerves
Moebius Syndrome: Symptoms, Causes, and Treatment
Close-up of a crying baby
An Overview of Cri du Chat Syndrome
Genetic testing is available for people with hemophilia A and their family members.
An Overview of Genetic Testing for Hemophilia A

Explore Rare Diseases