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

autoimmune blood
Blood Tests for 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?
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
Close up shot of medicine in and iv drip and patient on background in hospital room
Everything You Need to Know About Onpattro
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
Mother checking the temperature of her 4 month old feverish baby boy with a digital thermometer
Overview of Severe Combined Immunodeficiences
Parry Romberg Syndrome
An Overview of Parry Romberg Syndrome
Alport Syndrome
Learn About Alport Syndrome, a Disease That Affects the Kidneys
Treponema
Yaws: Symptoms, Causes, Diagnosis, and Treatment
OCP project employee collecting adult black flies, the vector for river blindness.
An Overview of Onchocerciasis (River Blindness)
Hookworm
An Overview of Hookworm
Mosquito biting for blood
Essential Information About the Mayaro Virus
Woman getting an ultrasound
How Bladder Exstrophy Is Identified in Fetuses
Close up of Caucasian woman's aging neck
Cutis Laxa: Symptoms, Causes, Diagnosis, and Treatment
Father burping his baby
An Overview of Dandy-Walker Syndrome
pseudoachondroplasia
Signs of Pseudoachondroplasia Appear Around Age 2, Here's What to Know About It
Specially trained in the health of your baby
An Overview of Sotos Syndrome
Newborn jejunal atresia
What Is Jejunal Artesia?
Barth Syndrome
Barth Syndrome: Symptoms, Causes, and Treatment
Pfeiffer Syndrome
An Overview of Pfeiffer Syndrome
We'll take it slow so you don't get hurt
How Inclusion Body Myositis Can Damage Muscles
at-home lyme disease test
The Best At-Home Lyme Disease Tests of 2021
Nurse listening to patient lungs
What Is Churg Strauss Syndrome?
The Home Theater Movie Watching Experience
Movies About Rare Diseases and Disorders
MMA-HCU-newborn-screening
What Is Methylmalonic Acidemia With Homocystinuria?
Antibodies destroy an infected cell by a virus, immune defense kill the infected cell - stock photo
What Is HLH?
Leg Pain
Everything To Know About Ribbing Disease
toddler daughter and father
What Is a Urachal Remnant?
Baby peeking out of crib
What Is Congenital Hyperinsulinism?
patient's test results
Everything You Need to Know About Susac Syndrome