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22q11.2 deletion syndrome (also called DiGeorge Syndrome) is a genetic condition that can cause a variety of physical and behavioral problems.
Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.
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 can be serious and require lifelong treatment.
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.