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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.
How Hypophosphatasia Is Diagnosed
What Are the Symptoms and Causes of Hypophosphatasia?
What Is CLOVES Syndrome?
What Is Gardner Syndrome?
Explore Genetic Disorders
All
Muscular Dystrophy
What to Know About Aicardi Syndrome
What to Know About Craniosynostosis Syndromes
What Is Cowden Syndrome?
What's Werner syndrome? Find out about this premature aging disease.
What Is Wiskott-Aldrich Syndrome?
What Is Bloom Syndrome?
How to Live Well with Hypophosphatasia
A Quick Look at Hypophosphatasia
Understanding and Managing Hereditary Angioedema Triggers
A Parent’s Guide to Hereditary Angioedema
The Symptoms and Causes of Dravet Syndrome
Enzyme Replacement Therapy for Pompe Disease
What Should I Know About Marfan Syndrome?
What Is Osteopetrosis?
5-Alpha-Reductase Deficiency Affects Male Development
What Is a Mutation?
What Is DNA?
What Is an Allele?
Are You Genetically Predisposed to Disease?
Everything to Know About Pompe Disease
Everything to Know About Familial Cold Autoinflammatory Syndrome
Everything to Know About Autoinflammatory Diseases
An Overview of Periodic Fever Syndromes
An Overview of Imperforate Anus
What Should I Know About Turner Syndrome?
Saethre Chotzen Syndrome Affects the Shape of the Skull
X-linked Hypophosphatemia: Symptoms, Causes, Diagnosis, and Treatment
An Overview of Duodenal Atresia
Goldenhar Syndrome Affects Facial Development
Amelogenesis Imperfecta Affects Dental Enamel Development
Everything You Need to Know About Ehlers-Danlos Syndrome
Understanding Fragile X Syndrome
An Overview of Kabuki Syndrome
An Overview of Lesch-Nyhan Syndrome
What is Phelan-McDermid Syndrome?
An Overview of Morquio Syndrome
An Overview of Thanatophoric Dysplasia
An Overview of Smith Lemli Opitz Syndrome
An Overview of Cleidocranial Dysplasia
An Overview of Coffin-Lowry Syndrome
An Overview of Coffin-Siris Syndrome
Find out How Spinal Muscular Atrophy (SMA) Developes
Crouzon Syndrome: Symptoms, Causes, Diagnosis, & Treatment
An Overview of Hermansky-Pudlak Syndrome
An Overview of Rubinstein-Taybi Syndrome
These Inherited Genetic Disorders Can Cause Intellectual Disabilities
What to Know About Methylmalonic Acidemia
What You Should Know About Epidermolysis Bullosa
What Is Methylmalonic Acidemia With Homocystinuria?
What is MCAD deficiency?
HLA Typing: The Importance of Transplants Explained
Overview of Familial Adenomatous Polyposis
Gene Therapy for Sickle Cell: Looking for a Disease Cure
What Is DiGeorge Syndrome?
An Overview of Klippel-Feil Syndrome
Signs and Symptoms of Oculocutaneous Albinism
An Overview of Hyperekplexia
An Overview of Chediak-Higashi Syndrome
What You Need to Know About Apert Syndrome
Genetic Testing With Whole Exome Sequencing
Explore Genetic Disorders
Muscular Dystrophy
More In Rare Diseases
Types