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
Child with pediatrician
What Is Gorlin Syndrome?
Gene therapy alters genetic material to treat diseases
An Overview of Gene Therapy
DNA strands
What Causes Fanconi Anemia?
Doctor advising couple about Kallman syndrome
What Is Kallmann Syndrome?
Doctor talking to young woman
What Is Von Hippel-Lindau Disease?
Cholesterol blood labs
What Is My Familial Hypercholesterolemia Inheritance Risk?
DNA strand with a small part breaking away from the rest.
Causes and Risk Factors of Xeroderma Pigmentosum
Mom and child holding a heart
What Is Homozygous Familial Hypercholesterolemia?
Boy in a long-sleeved jacket on the beach at night holding a lamp.
Understanding Xeroderma Pigmentosum
Avoiding UV light with xeroderma pigmentosum
What to Know About Xeroderma Pigmentosum Treatment
Young boy with t-shirt sitting on the special wheelchair with aluminum alloy wheels with vintage effect in summer
What Is Ataxia-Telangiectasia?
Female research team studying DNA samples. Computer screens with DNA helix in foreground
Ataxia-Telangiectasia: Causes and Risk Factors
Child in wheelchair with nurse or therapist
How Ataxia-Telangiectasia Is Treated
A child in a dark room sitting on the floor covers her eyes
Diagnosing Xeroderma Pigmentosum
Child in darkened room to protect from xeroderma pigmentosum
Xeroderma Pigmentosum: Signs and Symptoms You Should Know About
Shot of a doctor using a digital tablet to discuss a brain scan during a consultation in her office
How Ataxia Telangiectasia Is Diagnosed
Red eyes can be as symptom of ataxia-telangiectasia
Symptoms of Ataxia-Telangiectasia (A-T)
Hypophosphatasia Treatment
How Hypophosphatasia Is Treated
Genetic Testing tubes and equipment
How Hypophosphatasia Is Diagnosed
Pediatrician with child and parent
What Are the Symptoms and Causes of Hypophosphatasia?
Newborn with parents
What Is CLOVES Syndrome?
Doctor and patient
What Is Gardner Syndrome?
Female Brain
What to Know About Aicardi Syndrome
Fetal Skull
What to Know About Craniosynostosis Syndromes
Chromosome with DNA
What Is Cowden Syndrome?
Woman with wrinkled hands holding a cell phone
The Disease That Causes Adults to Age Quickly
X chromosome with defective gene
What Is Wiskott-Aldrich Syndrome?
DNA
What Is Bloom Syndrome?
Caucasian woman in wheelchair painting on easel - stock photo
How to Live Well with Hypophosphatasia
Physical Therapy - stock photo
A Quick Look at Hypophosphatasia
Person holding throat
Understanding and Managing Hereditary Angioedema Triggers
Child with facial swelling
A Parent’s Guide to Hereditary Angioedema
With Dravet syndrome, seizures can be preciptated by a fever
The Symptoms and Causes of Dravet Syndrome
Infusion Therapy
Enzyme Replacement Therapy for Pompe Disease
ophthalmologist and patient
What Should I Know About Marfan Syndrome?
Bone Health
What Is Osteopetrosis?
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

Explore Genetic Disorders

Muscular Dystrophy

More In Rare Diseases

Types