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

infusion-therapy-onpattro-rnai-therapy
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
An Overview of Erythropoietic Protoporphyria
Erythropoietic Protoporphyria: Symptoms, Causes, Diagnosis
Chromosomes and genes
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 wrinkled skin
Cutis Laxa: Symptoms, Causes, Diagnosis, and Treatment
Father burping his baby
Dandy-Walker Syndrome: Symptoms, Causes, and Treatment