This syndrome, known as asphyxiating thoracic dystrophy, is a form of dwarfism in which a very small chest interferes with breathing. The degree of chest constriction may range from mild ... Read More

Doctors at the Johns Hopkins School of Medicine, using a genetically-engineered thyroid stimulating hormone called thyrotropin alfa, were able to reduce the symptoms that often accompany the removal of the ... Read More

Mattie Stepanek, whose five volumes of inspirational poetry, the "Heartsongs" series, sold millions of copies, died June 23, 2004, at Children's National Medical Center in Washington, DC. He was 13 ... Read More

This metabolic disorder gets its name from the burned sugar smell it causes in the urine. When diagnosed early, dietary restrictions will prevent serious nervous system damage.

A study published in the May 15, 2004, issue of Cancer Research reports the identification of a cancer-causing gene involved in the development of leukemia and other cancers in children ... Read More

Ohio State University researchers have been working on a vaccine that could be used against the foodborne illnesses salmonella and listeriosis. The researchers took a strain of Salmonella bacteria that ... Read More

This inherited syndrome consists of cleft lip or cleft palate and distinctive pits in the lower lip. The degree to which individuals with van der Woude syndrome are affected varies, ... Read More

People with cystic fibrosis who receive double lung transplants to treat their disease have an average survival rate of 5.7 years after transplant compared to individuals who do not receive ... Read More

Researchers at the University of Michigan Comprehensive Cancer Center have identified a protein which allows them to tell pancreatic cancer from normal pancreatic tissue better than the current blood test ... Read More

This inherited metabolic disorder interrupts the synthesis of cholesterol in the body, resulting in too-low levels of cholesterol. Rather than being healthy, this leads to physical malformations, mental retardation, and ... Read More

A group of researchers funded by the National Institute of Child Health and Human Development (U.S.). has discovered a gene for Cornelia de Lange syndrome. The syndrome has many symptoms, ... Read More

Researchers at the National Institutes of Health (U.S.) have begun a five-year study to see whether stem cell (bone marrow) transplantation can be used as a therapy for severe, treatment-resistant ... Read More