Tumors throughout the body are the main symptoms of Von Hippel-Lindau disease. Both males and females of all ethnic backgrounds are affected by von Hippel-Lindau disease. It is estimated to ... Read More

This beautiful video features a collection of patients living with rare disease who participated in the Eurordis 2008 Photo Contest. You can see the winning photos on the Eurordis site. ... Read More

Addi and Cassi Hempel are 4-year-old twins diagnosed with Niemann-Pick disease Type C, a fatal genetic lipid storage disorder. Since their diagnosis, their parents have been on a quest to ... Read More

Hannah has been diagnosed with Gaucher disease type 2 or 3, a fatal genetic metabolic disorder with painful physical symptoms, severe neurologic decline, and a very short life expectancy. When ... Read More

Although each rare disease affects a small number of people, taken all together rare diseases affect millions of people in the world. Today's featured video, Genes, focuses on genes, which ... Read More

Today's featured video, National Organization for Rare Disorders, was created for the 25th anniversary in 2008 of the U.S. Orphan Drug Act. It gives a good overview of the establishment ... Read More

Blackfan Diamond anemia is a bone marrow disorder in which little or no red blood cells are produced. Red blood cells carry oxygen throughout the body, so a child with ... Read More

As part of World Rare Disease Day 2009, families of children and adults with rare diseases are submitting photos to show the world how many kinds of people are affected ... Read More

People who have had chickenpox have been infected with the varicella-zoster virus. After the infection, the virus remains quietly present in nerve cells in the body and can be reactivated, ... Read More

Cystic fibrosis (CF) is an inherited genetic disease in which the body produces abnormally thick, sticky mucus. Breathing and digestion are particularly affected by this, although all parts of the ... Read More

Tetralogy of Fallot (te-TRAL-uh-gee of fal-LOH) is a group of four heart defects present at birth. This group of defects affects both boys and girls of all ethnic backgrounds. It ... Read More

Patent ductus arteriosus (PDA) is more common in premature babies, and affects girls more often than boys. Also, babies with other types of congenital heart defects often have PDA. About ... Read More

Hypoplastic left heart syndrome occurs at a rate of up to 4 out of every 10,000 live births. It accounts for about 8% of all congenital heart defects. It occurs ... Read More

Since it is Congenital Heart Defect Awareness Week, I'll feature a heart defect a day this week so you can learn more about them. In coarctation of the aorta, a section ... Read More

It is estimated that 40,000 babies with congenital heart defects (CHD) are born in the United States each year. There are at least 35 different types of heart defects. All ... Read More

The Heart Truth is a national awareness and prevention campaign about heart disease in women sponsored by the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes ... Read More

Fabry disease is an inherited fat storage disorder. This means that because fat isn't broken down properly by the body, part of it accumulates in the blood, blood vessels, and ... Read More