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

omphalocele
Omphalocele: Overview and More
Close up shot of medicine in and iv drip and patient on background in hospital room
What Is Onpattro Used for?
Genetic test results on a computer screen
An Overview of RNAi Therapy
fibrodysplasia-ossificans-progressiva-child-x-ray
Fibrodysplasia Ossificans Progressiva: Symptoms, Treatment, and Diagnosis
Woman receiving injection
Aldosterone Test: Uses, Side Effects, Procedure, and Results
A urachal cyst infection most commonly is seen in toddlers
Urachal Cyst: Symptoms, Causes, Diagnosis, Treatment
Osteomyelitis
Osteomyelitis: Symptoms, Causes, Diagnosis and More
Newborn with Mom in NICU
Nonketotic Hyperglycinemia: Symptoms, Causes, Treatment
Fatigued after exercise.
Addison's Disease: Overview and More
Nurse taking blood from patient in hospital
Dexamethasone Suppression Test: Uses, Side Effects, Procedure, Results
Child getting exam for Perthes disease
Perthes Disease: Symptoms, Causes, Diagnosis, and Treatment
rear view of a girl at poolside
Erythropoietic Protoporphyria: Symptoms, Causes, Diagnosis
Female Scientist in Lab
What Genomic Testing Can Tell You About Health Risks
An older woman holding her hand in pain
An Overview of Proteus Syndrome
scientific research in lab
Development of Orphan Drugs for Rare Diseases
DNA Research, DNA test results on a computer screen in the laboratory with a tray of samples in the foreground
Fabry Disease: Symptoms, Causes, Diagnosis, Treatment
Baby test
Dravet Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Parents cradling newborn baby
Beckwith-Wiedemann Syndrome: Symptoms, Cause, Diagnosis
Woman giving mother bouquet of flowers in hospital
Goodpasture Syndrome: Disease of the Lungs and Kidneys
Gilbert Syndrome
Gilbert Syndrome: Symptoms, Causes, and Treatment
Phelan-McDermid Syndrome
Phelan-McDermid Syndrome: Symptoms, Causes, Treatment
Myotonia Congenita
Myotonia Congenita: Symptoms, Causes, and Treatment
A doctor examining a newborn baby in an incubator
An Overview of Propionic Acidemia
Science - Ophthalmologist
Kearns-Sayre Syndrome: Symptoms, Causes, and Treatment
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.
Hemophilia A: Genetic Testing and What to Expect
Mother checking the temperature of her 4 month old feverish baby boy with a digital thermometer
Severe Combined Immunodeficiencies: Symptoms and More
Parry Romberg Syndrome
Parry Romberg Syndrome: Symptoms, Causes, and Treatment
Alport Syndrome
Alport Syndrome: Symptoms, Causes, Diagnosis, Treatment
Treponema
Yaws: Symptoms, Causes, Diagnosis, and Treatment
OCP project employee collecting adult black flies, the vector for river blindness.
River Blindness: Symptoms, Causes, Diagnosis, Treatment
Hookworm
Hookworm: Symptoms, Causes, Diagnosis, and Treatment
Mosquito biting for blood
Essential Information About the Mayaro Virus
Woman getting an ultrasound
Bladder Exstrophy: Symptoms, Causes, and Treatment
Close up of Caucasian woman's aging neck
Cutis Laxa: Symptoms, Causes, Diagnosis, and Treatment
Father burping his baby
Dandy-Walker Syndrome: Symptoms, Causes, and Treatment
pseudoachondroplasia
Pseudoachondroplasia: Symptoms, Causes, and Diagnosis
Specially trained in the health of your baby
Sotos Syndrome: Symptoms, Causes, and Treatment
Newborn jejunal atresia
Jejunal Atresia: Symptoms, Causes, Diagnosis, Treatment
Barth Syndrome
Barth Syndrome: Symptoms, Causes, and Treatment
Pfeiffer Syndrome
Pfeiffer Syndrome: Symptoms, Causes, and Treatment
We'll take it slow so you don't get hurt
An Overview of Inclusion Body Myositis
at-home lyme disease test
The Best At-Home Lyme Disease Tests of 2021
Nurse listening to patient lungs
Churg Strauss Syndrome: Symptoms, Causes, and Treatment
The Home Theater Movie Watching Experience
Movies About Rare Diseases and Disorders
MMA-HCU-newborn-screening
Methylmalonic Acidemia With Homocystinuria: Symptoms, Causes, and Treatment
Leg Pain
Ribbing Disease: Overview and More
toddler daughter and father
What Is an Urachal Remnant?
Baby peeking out of crib
Congenital Hyperinsulinism: Overview and More
patient's test results
Susac Syndrome: Overview and More
Premature baby in ICU
Hypoplastic Left Heart Syndrome: Overview and More
Black lungs illustrating black lung disease
Black Lung Disease: Symptoms, Causes, Diagnosis, and Treatment
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
Doctor talking to patients
Fatal Familial Insomnia: Symptoms, Causes, Diagnosis, and Treatment
Albinism
Oculocutaneous Albinism: Symptoms, Causes, Diagnosis, and Treatment
Erythromelalgia
Erythromelalgia: Symptoms, Causes, Diagnosis, and Treatment
Closeup of a woman's ear. The ear is often affected with relapsing polychondritis.
Relapsing Polychondritis: Symptoms, Causes, Diagnosis, Treatment
Doctor talking with a young female patient and her mother
Melkersson Rosenthal Syndrome: Symptoms and Treatment
Young Boy Playing With the Doctors Stethoscope stock photo
An Overview of Growth Hormone Deficiency in Children