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Turner syndrome is a genetic disorder that affects females who have a missing or incomplete X chromosome.

Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food, and, in some cases...

Barth syndrome is metabolic disorder that affects the heart, muscles, immune system, and growth. It almost always occurs in boys.

Stridor is a high-pitched sound that is usually heard best when your child breathes in (known as “inspiration”). It’s usually caused by an obstruction or narrowing in your child's upper...

Systemic autoinflammatory diseases (SAIDs), sometimes called periodic fever syndromes, are a group of conditions that result from an inappropriate inflammatory response by the body.

Rocky Mountain spotted fever (RMSF) is an infection caused by a type of bacteria carried by ticks.

Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. It is the most common type of dwarfism.

Allergic rhinitis is a reaction that occurs when your child breathes in something they are allergic to.