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Inherited metabolic disorders
Caused by gene changes, these disorders affect the body's ability to change food into energy. They also affect how energy is used, such as for cell repair.
Down syndrome
Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21.
Vaginal agenesis
In this rare condition that occurs before birth, the vagina doesn't develop and the uterus may only develop partially or not at all. Learn about treatment.
Truncus arteriosus
Learn more about this congenital heart defect that makes it difficult for the heart to pump the right amount of blood to the lungs and the body.
DiGeorge syndrome (22q11.2 deletion syndrome)
This condition is due to missing part of chromosome 22. It may cause heart issues, thyroid problems, cleft palate, lower immunity and other health problems.
Tongue-tie (ankyloglossia)
With tongue-tie (ankyloglossia), a band of tissue (frenulum) tethers the tongue, restricting the range of motion. Learn about symptoms and treatment.
Pulmonary atresia with intact ventricular septum
Also called PA/IVS, this rare congenital heart defect is diagnosed at or shortly after birth. Learn the symptoms and how it's treated.
Pulmonary atresia with ventricular septal defect
This congenital heart defect affects the valve between the heart and lungs and includes a hole in the heart. Learn the symptoms and how it’s treated.
Arteriovenous malformation
In this condition, a tangle of blood vessels affects the flow of blood and oxygen. Treatment can help.
Heart valve disease
Learn about this condition in which one or more of the heart valves doesn't work properly.
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