Multiple Epiphyseal Dysplasia

What Is Multiple Epiphyseal Dysplasia? Multiple epiphyseal dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. Multiple epiphyseal dysplasia (ih-pih-fih-SEEL […]

If Your Baby Has a Birth Defect

If your baby was born with a birth defect, you might feel overwhelmed and unprepared. But you’re not alone. There are many people and resources available to help you and […]

Kniest Dysplasia

What Is Kniest Dysplasia? Kniest dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. Kniest dysplasia (k’neest dis-PLAY-zhuh) also […]

Hypochondroplasia

What Is Hypochondroplasia? Hypochondroplasia is a skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. Children growing up with hypochondroplasia (hi-po-kon-dro-PLAY-zhuh) can live long, […]

Hyperthyroidism and Graves Disease

What Is the Thyroid? The thyroid is a small gland below the skin and muscles at the front of the neck, at the spot where a bow tie would rest. […]

Goiters and Thyroid Nodules

What Is the Thyroid? The thyroid is a small gland below the skin and muscles at the front of the neck, at the spot where a bow tie would rest. […]

Hemophilia

What Is Hemophilia? Hemophilia is a rare disease that prevents blood from clotting as it should. It happens because the body doesn’t make enough of a protein called a clotting […]

G6PD Deficiency

What Is G6PD Deficiency? G6PD deficiency is a genetic disorder that most often affects males. It happens when the body doesn’t have enough of an enzyme called glucose-6-phosphate dehydrogenase (G6PD). […]

Ellis-Van Creveld Dysplasia

What Is Ellis-Van Creveld Dysplasia? Ellis-Van Creveld dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. Ellis-Van Creveld dysplasia […]

Diastrophic Dysplasia

What Is Diastrophic Dysplasia? Diastrophic dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. With regular care from medical […]

Dwarfism

What Is Dwarfism? Here are some facts that people may not know about dwarfism. Dwarfism is characterized by short stature caused by changes in bone and cartilage growth. According to […]

Campomelic Dysplasia

What Is Campomelic Dysplasia? Campomelic dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. People with campomelic dysplasia (kam-poh-MEL-ik […]

Cartilage Hair Hypoplasia

What Is Cartilage Hair Hypoplasia? Cartilage hair hypoplasia is a skeletal dyplasia. Skeletal dysplasias are conditions that cause problems with how cartilage and bone grow. Cartilage hair hypoplasia (hye-poe-PLAY-zhuh) also leads […]

22q11.2 Deletion Syndrome (DiGeorge Syndrome)

What Is 22q11.2 Deletion Syndrome (DiGeorge Syndrome)? 22q11.2 deletion syndrome is a genetic condition that some babies are born with. A genetic condition happens when there is a problem with […]

Achondroplasia

What Is Achondroplasia? Achondroplasia is a skeletal dysplasia. Skeletal dysplasias (diss-PLAY-zhuhs) are conditions that cause problems with how cartilage and bone grow. Children growing up with achondroplasia (ay-kon-druh-PLAY-zhuh) can live […]

Stem Cell Transplants

What Is a Stem Cell Transplant? A stem cell transplant is when doctors put healthy stem cells into someone’s bloodstream to replace their stem cells. It can take a while […]

Tests for Food Allergies

How Do Doctors Test for Food Allergies? Doctors often use a combination of skin testing and blood testing to test for a food allergy. During skin prick testing, an allergy […]

Severe Combined Immunodeficiency (SCID)

What Is Severe Combined Immunodeficiency? Severe combined immunodeficiency (SCID) is very rare genetic disorder that causes life-threatening problems with the immune system. It is a type of primary immune deficiency (also […]

Kids & Allergies

Overview What Are Allergies? Allergies are abnormal immune system reactions to things — known as allergens —that are typically harmless to most people. This causes symptoms that can range from just annoying to possibly life-threatening. […]