- Absent eyebrows and eyelashes with mental retardation
- Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose
- Eyebrows and eyelashes absence - intellectual disability
- Hal-Berg-Rudolph syndrome
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ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
PRF 10th Anniversary Workshop on Progeria-“From Bench to Bedside in a Decade”, Sunday, April 11, 2010 - Tuesday, April 13, 2010
Location: Seaport Hotel and World Trade Center, Boston, MA
Description: The goal of the 2010 Progeria Research Foundation (PRF) Workshop was to provide a platform to assemble clinicians and scientists, integrate their findings, and facilitate new directions within both clinical and basic science research. The main focus was to bring basic and clinical scientists together to promote collaboration and progress in progeria research. It is the only meeting of its kind and is essential for promoting a bench to bedside view of the field and productive discussion between basic and translational scientists regarding not only progeria but also aging and cardiovascular disease (CVD). Importantly, it provided a forum for examining simultaneously in vitro studies, mouse model studies, and as yet unpublished human treatment trial outcomes. Progeria research is at a pinnacle, with more peer-reviewed papers emerging than ever before, with three clinical trials in progress, and with a plethora of new data examining the links between Hutchinson-Gilford progeria syndrome (HGPS), aging, and CVD. The 2010 PRF workshop provided an exciting forum for sharing data and ideas about how to continue pushing toward a greater understanding of how these fields relate to one another.