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22q11.2 deletion syndrome is a genetic condition that can cause a variety of physical and behavioral problems.
Ataxia telangiectasia is a rare genetic condition. Children with the condition have uncoordinated movements that get worse over time.
Some birth defects are minor and cause no problems; others cause major disabilities. Learn about the different types of birth defects, and how to help prevent them.
Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition. It affects the heart, facial features, and skin.
Charcot-Marie-Tooth disease (CMT) is a neurological disorder. It causes muscle weakness and numbness, most commonly in the arms and legs.
CLOVES syndrome is a very rare genetic disorder that causes vascular, skin, spinal, and bone or joint abnormalities.
Congenital adrenal hyperplasia (CAH) affects the adrenal glands, which make important hormones. Symptoms depend on a child's age, sex, and which hormones the adrenal glands make too little or too much of.
Some babies are born with a thyroid gland that didn't develop correctly or doesn't work as it should. This is called congenital hypothyroidism.
Costello syndrome is a very rare disorder that affects multiple organ systems. It causes causes problems that affect a child's heart, muscles, bones, skin, brain, and spinal cord.
Down syndrome is a condition in which extra genetic material causes delays in the way a child develops, both physically and mentally.