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Diseases

Genetic and Rare Diseases Information Center (GARD)

Harlequin ichthyosis


Other Names for this Disease
  • Ichthyosis congenita, Harlequin fetus type
  • Harlequin fetus
  • HI
  • Ichthyosis congenita, harlequin type
  • Ichthyosis fetalis, Harlequin type
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.

  • The 11th Annual North American Genetic Analysis of ABC Transporters Workshop, Wednesday, September 24, 2014 - Thursday, September 25, 2014
    Location: NCI-Frederick, Frederick, MD
    Description: <p>This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.</p>

  • Pediatric Dermatology Research Alliance (PeDRA) Annual Conference, Friday, October 18, 2013 - Sunday, October 20, 2013
    Location: Westin O’Hare Hotel , Rosemont, IL
    Description: The goals of the PEDRA annual meetings are to provide an educational platform that will enhance the research skills of PeDRA investigators and establish a forum for the critical review of research proposals developed by PeDRA disease-focused groups and to create a bridge between basic scientists and clinicians to enhance opportunities for research. Each group will identify and prioritize the clinical needs and therapeutic opportunities.

  • The 10th Annual North American Genetic Analysis of ABC Transporters Workshop, Thursday, September 19, 2013 - Friday, September 20, 2013
    Location: NCI-Frederick, Frederick, MD
    Description: The goals of this conference are to bring together multidisciplinary experts in ciliary motility, mucus, mucociliary interactions and other cilia/fluid systems to discuss the latest results in these fields and to investigate new ways of approaching these dynamic interactive systems to further understanding of their properties and impact in human health and disease.

  • Frontiers in Ichthyosis Research, Wednesday, June 23, 2010 - Friday, June 25, 2010
    Location: Regal Sun Resort in Lake Buena Vista, Orlando, Florida
    Description: The goals of this conference were to (1) provide an opportunity for investigators to become inspired by ichthyosis patients, thereby helping them focus on facilitating diagnosis, improving understanding of long- and short-term medical and social issues, and developing new therapeutic approaches to treatment and (2) identify new ways in which the investigators, patients, and patient support groups can achieve ongoing synergistic interactions.

  • The Sixth Annual North American Genetic Analysis of ABC Transporters Workshop, Thursday, September 24, 2009 - Friday, September 25, 2009
    Location: Frederick, MD
    Description: The objectives of the meeting were to bring together researchers in the field of ABC transporters to discuss advances in the field and new research findings. Presentations included talks by students and postdoctoral scientists on their current research, overview presentations by leading researchers in the field, and poster presentations. In addition, presentations were given by representatives of rare disease foundations to provide interaction between scientists in the field and the disease foundations. The goals were to bring the top research groups in the field together with representatives from major disease foundations to discuss new data and educate new investigators in the field. New research ideas and funding ideas, productive collaborations, and job opportunities for young investigators were generated.

Other Names for this Disease
  • Ichthyosis congenita, Harlequin fetus type
  • Harlequin fetus
  • HI
  • Ichthyosis congenita, harlequin type
  • Ichthyosis fetalis, Harlequin type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.