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Health A-Z
Rare Diseases
Genetic Disorders
What are the chances that you'll inherit health issues from your parents? Learn the role genetics plays in certain medical conditions and how researchers are using this information.
Osteopetrosis: Overview and More
By Lana Barhum
What Is a Mutation?
Medically reviewed by Chris Vincent, MD
What Is DNA?
Medically reviewed by Chris Vincent, MD
Allele: Function, How It Works, Significance
Medically reviewed by Lauren Schlanger, MD
Explore Genetic Disorders
All
Muscular Dystrophy
Genetic Predisposition: What It Is and How It Works
Medically reviewed by Lauren Schlanger, MD
Pompe Disease: Overview and More
Medically reviewed by Nicholas R. Metrus, MD
Familial Cold Autoinflammatory Syndrome: Overview and More
Medically reviewed by David Ozeri, MD
Autoinflammatory Diseases: Overview and More
Medically reviewed by Scott Zashin, MD
Periodic Fever Syndromes: Overview and More
Medically reviewed by Rony Kampalath, MD
Imperforate Anus: Overview and More
Medically reviewed by Lyndsey Garbi, MD
Turner Syndrome: Overview and More
Medically reviewed by Rochelle Collins, DO
Saethre Chotzen Syndrome: Overview and More
Medically reviewed by Lyndsey Garbi, MD
X-linked Hypophosphatemia: Overview and More
Medically reviewed by Chris Vincent, MD
Duodenal Atresia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lyndsey Garbi, MD
Goldenhar Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Keri Peterson, MD
Amelogenesis Imperfecta: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Ehlers-Danlos Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Kashif J. Piracha, MD
Fragile X Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Inheritance
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Kabuki Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Chris Vincent, MD
Lesch-Nyhan Syndrome: Symptoms, Causes, Diagnosis, Treatment
Medically reviewed by Elizabeth Molina Ortiz, MD, MPH
Phelan-McDermid Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Sarah Rahal, MD
Morquio Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lindsey Waldman, MD, RD
Thanatophoric Dysplasia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lyndsey Garbi, MD
Smith Lemli Opitz Syndrome: Symptoms, Causes, and Diagnosis
Medically reviewed by Lyndsey Garbi, MD
Cleidocranial Dysplasia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lyndsey Garbi, MD
Coffin-Lowry Syndrome: Symptoms, Causes, and Treatment
Medically reviewed by Claudia Chaves, MD
Coffin-Siris Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Lyndsey Garbi, MD
Spinal Muscular Atrophy (SMA): Causes and Risk Factors
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Crouzon Syndrome: Symptoms, Causes, Diagnosis, & Treatment
Medically reviewed by Brian Levine, MD
Hermansky-Pudlak Syndrome: Symptoms, Causes, Treatment
Medically reviewed by Jason DelCollo, DO
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Medically reviewed by Brian Levine, MD
MBD5 Genetic Disorders: Symptoms, Causes, Diagnosis, Treatment
Medically reviewed by Brian Levine, MD
Methylmalonic Acidemia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Rony Kampalath, MD
Epidermolysis Bullosa: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Jason DelCollo, DO
Methylmalonic Acidemia With Homocystinuria: Symptoms, Causes, and Treatment
Medically reviewed by Cristian Zanartu, MD
MCAD: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Chris Vincent, MD
HLA Typing: Purpose, Procedure, Interpretation
Medically reviewed by Keri Peterson, MD
Familial Adenomatous Polyposis Overview
Medically reviewed by Rony Kampalath, MD
Benefits and Risks of Gene Therapy for Sickle Cell
Medically reviewed by Caitilin Kelly, MD
DiGeorge Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Isaac O. Opole, MD, PhD
Klippel-Feil Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Cristian Zanartu, MD
Oculocutaneous Albinism: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Casey Gallagher, MD
Hyperekplexia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Rony Kampalath, MD
Chediak-Higashi Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lauren Schlanger, MD
Apert Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Kashif J. Piracha, MD
Understanding Whole Exome Sequencing Genetic Tests
Medically reviewed by Richard N. Fogoros, MD
Hypoplasia Surgery: Preparation, Recovery, Long-Term Care
Medically reviewed by Scott Sundick, MD
Familial Dysautonomia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Diana Apetauerova, MD
What You Need to Know About Gaucher Disease
Medically reviewed by Keri Peterson, MD
Tay-Sachs Disease: Causes, Diagnosis, and Prevention
Medically reviewed by Keri Peterson, MD
Wolfram Syndrome: Causes, Symptoms, Diagnosis, and Treatment
Medically reviewed by Keri Peterson, MD
Heterozygous vs. Homozygous Differences
Medically reviewed by Chris Vincent, MD
Symptoms, Causes, and Treatments of Angelman Syndrome
Medically reviewed by Keri Peterson, MD
Understanding Urea Cycle Disorders
Medically reviewed by Jason DelCollo, DO
Williams Syndrome: Symptoms, Causes, Diagnosis, and Coping
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Overview of Gaucher Disease
Medically reviewed by Keri Peterson, MD
Erythropoietic Protoporphyria: Symptoms, Causes, Diagnosis
Medically reviewed by Keri Peterson, MD
An Overview of Inborn Errors of Metabolism
Medically reviewed by Chris Vincent, MD
Nonketotic Hyperglycinemia: Symptoms, Causes, Treatment
Medically reviewed by Nicholas R. Metrus, MD
Familial Mediterranean Fever: Causes, Diagnosis, and Treatment
Medically reviewed by Caitilin Kelly, MD
Hereditary Hemorrhagic Telangiectasia Overview
Medically reviewed by Rochelle Collins, DO
Wilson's Diseases Symptoms and Treatment
Medically reviewed by Rochelle Collins, DO
Genetic Testing: Uses, Side Effects, Procedure, Results
Medically reviewed by Jason DelCollo, DO
Fabry Disease: Symptoms, Causes, Diagnosis, Treatment
Medically reviewed by Caitilin Kelly, MD