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Diseases

Genetic and Rare Diseases Information Center (GARD)

Orofaciodigital syndrome 6


Other Names for this Disease
  • OFD6
  • Joubert syndrome with orofacialdigital anomalies
  • Oral-facial-digital syndrome type 6
  • Varadi-Papp syndrome
  • Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


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.

  • 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.

Other Conferences

Other Names for this Disease
  • OFD6
  • Joubert syndrome with orofacialdigital anomalies
  • Oral-facial-digital syndrome type 6
  • Varadi-Papp syndrome
  • Central polydactyly cleft lip/palate or lingual lump and psychomotor retardation
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.