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.

Explore Genetic Disorders

All Muscular Dystrophy
Three DNA double helixes are shown in bright colors.
Genetic Predisposition: What It Is and How It Works
Medically reviewed by Lauren Schlanger, MD
Genetic Disorder
Pompe Disease: Overview and More
Medically reviewed by Nicholas R. Metrus, MD
Fever
Familial Cold Autoinflammatory Syndrome: Overview and More
Medically reviewed by David Ozeri, MD
Family History
Autoinflammatory Diseases: Overview and More
Medically reviewed by Scott Zashin, MD
Baby having temperature taken may have a periodic fever syndrome
Periodic Fever Syndromes: Overview and More
Medically reviewed by Rony Kampalath, MD
imperforate anus
Imperforate Anus: Overview and More
Medically reviewed by Lyndsey Garbi, MD
Medical exam
Turner Syndrome: Overview and More
Medically reviewed by Rochelle Collins, DO
Newborn baby
Saethre Chotzen Syndrome: Overview and More
Medically reviewed by Lyndsey Garbi, MD
Family At Home Encouraging Baby Daughter To Take First Steps
X-linked Hypophosphatemia: Overview and More
Medically reviewed by Chris Vincent, MD
duodenal atresia
Duodenal Atresia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lyndsey Garbi, MD
Mother with newborn baby
Goldenhar Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Keri Peterson, MD
Little girl at the dentist
Amelogenesis Imperfecta: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Doctor-Patient
Ehlers-Danlos Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Kashif J. Piracha, MD
Teacher helping elementary school student in class
Fragile X Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Inheritance
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
brother and sister - stock photo
Kabuki Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Chris Vincent, MD
Baby with finger in her mouth
Lesch-Nyhan Syndrome: Symptoms, Causes, Diagnosis, Treatment
Medically reviewed by Elizabeth Molina Ortiz, MD, MPH
Chromosomes
Phelan-McDermid Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Sarah Rahal, MD
Smiling mother taking selfie with autistic son while sitting on sofa at home - stock photo
Morquio Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lindsey Waldman, MD, RD
NICU Baby with downsyndrome - stock photo
Thanatophoric Dysplasia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lyndsey Garbi, MD
Homeschooling Girl with Down Syndrome
Smith Lemli Opitz Syndrome: Symptoms, Causes, and Diagnosis
Medically reviewed by Lyndsey Garbi, MD
Portrait of happy disabled businessman with laptop at desk in office - stock photo
Cleidocranial Dysplasia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lyndsey Garbi, MD
Cute boy with Down syndrome playing with dad on in home
Coffin-Lowry Syndrome: Symptoms, Causes, and Treatment
Medically reviewed by Claudia Chaves, MD
Father swinging disabled son at playground - stock photo
Coffin-Siris Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping
Medically reviewed by Lyndsey Garbi, MD
Boy in a wheelchair with his mom
Spinal Muscular Atrophy (SMA): Causes and Risk Factors
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Pediatrician doing a baby physical exam
Crouzon Syndrome: Symptoms, Causes, Diagnosis, & Treatment
Medically reviewed by Brian Levine, MD
Albino African man hugging his curly girlfriend
Hermansky-Pudlak Syndrome: Symptoms, Causes, Treatment
Medically reviewed by Jason DelCollo, DO
Pediatrician
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Medically reviewed by Brian Levine, MD
DNA Strand
MBD5 Genetic Disorders: Symptoms, Causes, Diagnosis, Treatment
Medically reviewed by Brian Levine, MD
African American nurse examining baby in hospital incubator
Methylmalonic Acidemia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Rony Kampalath, MD
Mother tending to her son's wounded arm
Epidermolysis Bullosa: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Jason DelCollo, DO
MMA-HCU-newborn-screening
Methylmalonic Acidemia With Homocystinuria: Symptoms, Causes, and Treatment
Medically reviewed by Cristian Zanartu, MD
Mother and daughter laughing
MCAD: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Chris Vincent, MD
A blood sample being held with a row of human samples for analytical testing including blood, urine, chemistry, proteins, anticoagulants and HIV in lab
HLA Typing: Purpose, Procedure, Interpretation
Medically reviewed by Keri Peterson, MD
Familial Adenomatous Polyposis Overview
Medically reviewed by Rony Kampalath, MD
Midsection Of Scientist Holding Blood In Laboratory
Benefits and Risks of Gene Therapy for Sickle Cell
Medically reviewed by Caitilin Kelly, MD
Worried Mom
DiGeorge Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Isaac O. Opole, MD, PhD
X-ray of a child examining Klippel-Feil syndrome
Klippel-Feil Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Cristian Zanartu, MD
Albinism
Oculocutaneous Albinism: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Casey Gallagher, MD
Young girl who is sick
Hyperekplexia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Rony Kampalath, MD
Female doctor and patient talking in exam room
Chediak-Higashi Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Lauren Schlanger, MD
Newborn Baby Sleeping In Hospital Bassinet
Apert Syndrome: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Kashif J. Piracha, MD
Life scientist researching in the laboratory.
Understanding Whole Exome Sequencing Genetic Tests
Medically reviewed by Richard N. Fogoros, MD
Close-up of a cardiac monitor
Hypoplasia Surgery: Preparation, Recovery, Long-Term Care
Medically reviewed by Scott Sundick, MD
Doctor checking a child's blood pressure
Familial Dysautonomia: Symptoms, Causes, Diagnosis, and Treatment
Medically reviewed by Diana Apetauerova, MD
A doctor examining his patient's mans knee in an examination room
What You Need to Know About Gaucher Disease
Medically reviewed by Keri Peterson, MD
Couple sitting in consulting room at the doctor s
Tay-Sachs Disease: Causes, Diagnosis, and Prevention
Medically reviewed by Keri Peterson, MD
Female Ophthalmologist Checking Patient Eyes Through Equipment At Clinic
Wolfram Syndrome: Causes, Symptoms, Diagnosis, and Treatment
Medically reviewed by Keri Peterson, MD
Light Micrograph of a Set of Normal Male Chromosomes
Heterozygous vs. Homozygous Differences
Medically reviewed by Chris Vincent, MD
Angelman syndrome in a young man
Symptoms, Causes, and Treatments of Angelman Syndrome
Medically reviewed by Keri Peterson, MD
African American female nurse examining premature baby
Understanding Urea Cycle Disorders
Medically reviewed by Jason DelCollo, DO
Pediatrician checking height of girl in examination room
Williams Syndrome: Symptoms, Causes, Diagnosis, and Coping
Medically reviewed by Anita C. Chandrasekaran, MD, MPH
Ambulatory chemotherapy
Overview of Gaucher Disease
Medically reviewed by Keri Peterson, MD
rear view of a girl at poolside
Erythropoietic Protoporphyria: Symptoms, Causes, Diagnosis
Medically reviewed by Keri Peterson, MD
Nurse helping newborn baby in hospital nursery
An Overview of Inborn Errors of Metabolism
Medically reviewed by Chris Vincent, MD
Newborn with Mom in NICU
Nonketotic Hyperglycinemia: Symptoms, Causes, Treatment
Medically reviewed by Nicholas R. Metrus, MD
Doctor assisting patient with severe abdominal pain
Familial Mediterranean Fever: Causes, Diagnosis, and Treatment
Medically reviewed by Caitilin Kelly, MD
Blood vessel with blood cells, illustration
Hereditary Hemorrhagic Telangiectasia Overview
Medically reviewed by Rochelle Collins, DO
Eye Exam looking for Wilson's Disease
Wilson's Diseases Symptoms and Treatment
Medically reviewed by Rochelle Collins, DO
DNA sample being pipetted into petri dish with DNA gel in background
Genetic Testing: Uses, Side Effects, Procedure, Results
Medically reviewed by Jason DelCollo, DO
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
Medically reviewed by Caitilin Kelly, MD