Orofaciodigital syndrome 6
- Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
- Joubert syndrome with oral-facial-digital syndrome
- Joubert syndrome with orofacialdigital anomalies
- Joubert syndrome with orofaciodigital defect
News & Events
ORDR Co-Sponsored Conferences
The Spectrum of Caregiving and Palliative Care in Rare Diseases, Tuesday, June 09, 2015 - Wednesday, June 10, 2015
Location: NIH Natcher Conference Center, Bethesda, MD
Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.
RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, Wednesday, July 13, 2011 - Saturday, July 16, 2011
Location: Doubletree Hotel Conference Center , Orlando, FL
Description: The health care recommendations and research agenda will be reported to NIH and disseminated to families and professionals via mailings, Web sites, and publication in peer-reviewed journals. Future conferences will focus on translating the rapid basic science advances into clinically useful, disease-specific treatments. In addition to directly improving the lives of individuals with Joubert syndrome (JS), JS research has broad implications for human disease because the genes responsible for JS have also been implicated in more common disorders such as autism, schizophrenia, retinal blindness, and obesity.
David W. Smith Workshop on Malformations and Morphogenesis, Friday, August 27, 2010 - Wednesday, September 01, 2010
Location: Alderbrook Resort, Union, Washington
Description: The goal of the Smith Workshop was to bring together a diverse group of clinicians and scientists to advance general understanding of human dysmorphogenesis as well as normal morphogenesis. To meet this goal, the descriptions of new syndromes, more detailed phenotypic characterization of already established syndromes, studies of the natural history of human malformations, development of an understanding of the molecular and genetic mechanisms of normal and abnormal morphogenesis, and understanding the role that embryogenesis and organogenesis play in the development of human malformations were the central topics of this meeting. The organizers placed emphasis on the interplay between the environment and genes as the causes of human birth defects.
VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
- Joubert Syndrome & Related Disorders Foundation
10th Biennial Conference
July 13-16, 2011