Orofaciodigital syndrome 6
- Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
- Joubert syndrome with orofacialdigital anomalies
- Oral facial digital syndrome 6
- Oral facial digital syndrome type 6
News & Events
ORDR Co-Sponsored Conferences
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.
- Joubert Syndrome & Related Disorders Foundation
10th Biennial Conference
July 13-16, 2011