Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, ...

"It's estimated there are anywhere from 7,000 to 10,000 rare diseases, but there are only ICD codes for about 500 rare diseases." Researchers could obtain data on 379 rare diseases based on their ...

With over 40% of all medicines in the pipeline aimed at rare diseases, the future looks positive for increasing the number of treatments available. However, as Ben Hargreaves discovers ...

Rare Disease Day was born in 2008 at the proposal of EURORDIS, an acronym that refers to the European Organisation for Rare Diseases. The origin of the day lies in raising the visibility of rare ...

In a small study, patients with the syndrome were more likely to experience ... with a focus on infectious diseases, pandemics and the public health agencies that try to manage them.

Register for the program here. More than 30 million people in the United States are affected by rare diseases, many of which are life-threatening conditions without available treatments.

Norrie disease is inherited in a recessive manner, meaning that people have to inherit two copies of the mutated NDP gene — one from each parent — to develop the condition.However, because ...

Visakhapatnam (Andhra pradesh) [India], February 17 (ANI): Dr Sivananda, Superintendent of King George Hospital, Visakhapatnam on Monday provided important information on the Guillain Barre Syndrome ...

Early interventionists Jennifer McMakin with Flourishing Families and Meggy Standridge with Bloom & Blossom discuss their work and how they help children with both rare and common diseases thrive.

To mark progress on rare diseases, experts across the country, including those at @HopkinsMedicine, will celebrate #RareDiseaseDay on Feb. 28. › Click to Tweet As key members of the Johns Hopkins ...