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
Group of pre-teens sitting on a fence.
5-Alpha-Reductase Deficiency Affects Male Development
research team studying DNA mutations
What Is a Mutation?
DNA molecule illustration
What Is DNA?
Chromosome, genes, and alleles
What Is an Allele?
Three DNA double helixes are shown in bright colors.
Are You Genetically Predisposed to Disease?
Genetic Disorder
Everything to Know About Pompe Disease
Fever
Everything to Know About Familial Cold Autoinflammatory Syndrome
Family History
Everything to Know About Autoinflammatory Diseases
Baby having temperature taken may have a periodic fever syndrome
An Overview of Periodic Fever Syndromes
imperforate anus
An Overview of Imperforate Anus
Medical exam
What Should I Know About Turner Syndrome?
Newborn baby
Saethre Chotzen Syndrome Affects the Shape of the Skull
Family At Home Encouraging Baby Daughter To Take First Steps
X-linked Hypophosphatemia: Symptoms, Causes, Diagnosis, and Treatment
duodenal atresia
An Overview of Duodenal Atresia
Mother with newborn baby
Goldenhar Syndrome Affects Facial Development
Little girl at the dentist
Amelogenesis Imperfecta Affects Dental Enamel Development
Doctor-Patient
Everything You Need To Know About Ehlers-Danlos Syndrome
Teacher helping elementary school student in class
Understanding Fragile X Syndrome
brother and sister - stock photo
An Overview of Kabuki Syndrome
Baby with finger in her mouth
An Overview of Lesch-Nyhan Syndrome
Chromosomes
What is Phelan-McDermid Syndrome?
Smiling mother taking selfie with autistic son while sitting on sofa at home - stock photo
An Overview of Morquio Syndrome
NICU Baby with downsyndrome - stock photo
An Overview of Thanatophoric Dysplasia
Homeschooling Girl with Down Syndrome
An Overview of Smith Lemli Opitz Syndrome
Portrait of happy disabled businessman with laptop at desk in office - stock photo
An Overview of Cleidocranial Dysplasia
Cute boy with Down syndrome playing with dad on in home
An Overview of Coffin-Lowry Syndrome
Father swinging disabled son at playground - stock photo
An Overview of Coffin-Siris Syndrome
Boy in a wheelchair with his mom
Find out How Spinal Muscular Atrophy (SMA) Developes
Pediatrician doing a baby physical exam
Crouzon Syndrome: Symptoms, Causes, Diagnosis, & Treatment
Albino African man hugging his curly girlfriend
An Overview of Hermansky-Pudlak Syndrome
Pediatrician
An Overview of Rubinstein-Taybi Syndrome
DNA Strand
These Inherited Genetic Disorders Can Cause Intellectual Disabilities
African American nurse examining baby in hospital incubator
What to Know About Methylmalonic Acidemia
Mother tending to her son's wounded arm
What You Should Know About Epidermolysis Bullosa
MMA-HCU-newborn-screening
What Is Methylmalonic Acidemia With Homocystinuria?
Mother and daughter laughing
What is MCAD deficiency?
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: The Importance of Transplants Explained
Overview of Familial Adenomatous Polyposis
Midsection Of Scientist Holding Blood In Laboratory
Gene Therapy for Sickle Cell: Looking for a Disease Cure
Worried Mom
What Is DiGeorge Syndrome?
X-ray of a child examining Klippel-Feil syndrome
An Overview of Klippel-Feil Syndrome
Albinism
Signs and Symptoms of Oculocutaneous Albinism
Young girl who is sick
An Overview of Hyperekplexia
Female doctor and patient talking in exam room
An Overview of Chediak-Higashi Syndrome
Newborn Baby Sleeping In Hospital Bassinet
What You Need to Know About Apert Syndrome
Life scientist researching in the laboratory.
Genetic Testing With Whole Exome Sequencing
Close-up of a cardiac monitor
An Overview of Hypoplasia Surgery
Doctor checking a child's blood pressure
What to Know about Familial Dysautonomia
A doctor examining his patient's mans knee in an examination room
What Is 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
How Wolfram Syndrome May Lead to Other Complications
Light Micrograph of a Set of Normal Male Chromosomes
How to Understand Heterozygous vs. Homozygous Genes
Angelman syndrome in a young man
Discover the 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
What Is Williams Syndrome?
Ambulatory chemotherapy
Overview of Gaucher Disease
rear view of a girl at poolside
An Overview of Erythropoietic Protoporphyria
Nurse helping newborn baby in hospital nursery
What Problems Do Inborn Errors of Metabolism Cause?
Newborn with Mom in NICU
Ins and Outs of a Rare Genetic Condition: Nonketotic Hyperglycinemia
Doctor assisting patient with severe abdominal pain
What Are the Risk Factors for Familial Mediterranean Fever?
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