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

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