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Condition
Protein Losing Enteropathy (PLE)
Protein losing enteropathy (PLE) explains the condition when the body loses important proteins because they are leaking into the intestines.
Juvenile Xanthogranuloma (JXG)
A juvenile xanthogranuloma, or JXG, is a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color.
Condition
Cystic Fibrosis - Related Diabetes
Cystic fibrosis-related diabetes (CFRD) is a type of diabetes that affects children and adults with cystic fibrosis (CF). Diabetes is a common complication for patients with cystic fibrosis.
Condition
Double-Inlet Left Ventricle
Double-inlet left ventricle (DILV) is a heart defect where both upper chambers send blood to one lower chamber, causing mixed blood flow to the body and lungs. Most babies with DILV will need many heart surgeries over their lifetime. Most surgeries are successful, but your child will need cardiology care for life.
Condition
Ebstein's Anomaly
Ebstein’s anomaly is a heart problem that some people are born with. It means the tricuspid valve, which helps control blood flow in the heart, doesn’t work right. Most babies with severe Ebstein’s need surgery at some point.
Condition
Ewing Sarcoma
Ewing sarcoma is a type of bone or soft tissue cancer. It is the second most common tumor of the bone and affects children and young adults.
Henoch-Schonlein Purpura (HSP)
HSP results from inflammation of small blood vessels in the skin and other organs in the body.
Condition
Factor V Leiden
Factor V (factor five) is a protein involved in the blood clotting process. Children born with Factor V Leiden produce a mutated form of Factor V that does not respond well to activated Protein C.
Condition
Ectopic Ureterocele
An ectopic ureterocele is when there is an abnormality in the renal system, usually with an extra tube that drains pee (urine) into the wrong place.
Familial Adenomatous Polyposis (FAP)
Familial adenomatous polyposis (FAP), previously known as Gardner syndrome, is an inherited colorectal cancer syndrome characterized by the development of numerous adenomas throughout the digestive tract. Other organs of the body can be affected as well. FAP can be passed from one generation to the next or occur as a new genetically driven disorder.