Frequently Asked Questions

  • What is GestaltMatcher Database?

    GestaltMatcher Database (GMDB) is a collection of curated medical photography of genetic syndromes as a resource for clinician and computer scientists and a service operated by the Association for Genome Diagnostics (AGD), which is a registered non-for-profit organization in Germany. GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. GMDB is a non-profit community resource and is not linked to any one publisher or journal.

    We politely request that any use of data obtained from the GestaltMatcher Database browser cite the GestaltMatcher flagship paper and any online resources that include the data set provide a link to the browser. There is no need to include us as authors on your manuscript, unless we contributed specific advice or analysis for your work.

    If you would like to use our database and cite our work, please cite our paper and GestaltMacher Database:

    Hsieh, TC., Bar-Haim, A., Moosa, S. et al. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet (2022). https://doi.org/10.1038/s41588-021-01010-x (PDF)

    For more information about GestaltMatcher Database, please watch the video on the right-hand side.

  • Talk at the 31st European Dysmorphology and ERN ITHACA Meeting

  • What can be done with GestaltMatcher Database?

    GestaltMatcher Database (GMDB) is a collection of curated medical photography of genetic syndromes as a resource for clinicians and computer scientists. GestaltMatcher Database can serve as a reference tool to help clinicians diagnose patients with rare diseases and learn and gain knowledge of rare diseases and be a research platform to conduct analysis. For more information about GestaltMatcher Database, please watch the video on the right-hand side.

    GestaltMatcher Database has more than one possibility, if you have any suggestions or ideas, please don't hesitate to contact us.

    If you are interested in using GestaltMatcher Database, more information can be found on our Publications page.

  • This video describes the features of the GestaltMatcher database - a large medical image database of rare genetic disorders with facial dysmorphisms.

  • How do I sign up GestaltMatcher Database?

    If you'd like to join us and see the growth of GestaltMatcher Database, please send an email to info@gestaltmatcher.org to sign up. We're working hard to add clinicians and computer scientists to GestaltMatcherDB as fast as possible. Thanks for Understanding.

    For more information about GestaltMatcher Database, please watch the video on the right-hand side.

  • This video describes how to Access the GestaltMatcher database - a large medical image database of rare genetic disorders with facial dysmorphisms.

  • How do I upload a case?

    After successfully signing up and being part of us, you can upload cases you have. You can follow the manual instruction, which can be found on our Downloads page and step by step contribute a case to GestaltMatcher Database. Video instruction can also be found on the right-hand side.

  • This video describes how you can upload patients to the GestaltMatcher database - a large medical image database of rare genetic disorders with facial dysmorphisms.

  • How do I provide consent of a case?

    GestaltMatcher Database only uses digital consent. We provide consent forms both in English and German, which can be found in our Downloads page. Video instruction can also be found on the right-hand side.

  • This video describes how you can upload patients to the GestaltMatcher database - a large medical image database of rare genetic disorders with facial dysmorphisms.

  • Is there research literature regarding GestaltMatcher Database?

    In 2020, we first published our study results of "GestaltMatcher facilitates rare disease matching using facial phenotype descriptorson" on medRxiv and the GestaltMatcher Database is part of this work. In 2021 our work GestaltMatcher facilitates rare disease matching using facial phenotype descriptorson was accepted by Journal Nature Genetics and officially published in Feb 2022. After that, more and more clinicians and scientific researchers utilize GestaltMatcher Database to diagnose patients and, based on our work contribute more to academia and society. More information can be found on our Publications page.

  • How do I cite GestaltMatcher Database?

    GestaltMatcher database is a service operated by the Association for Genome Diagnostics (AGD), which is a registered non-for-profit organization in Germany. GMDB aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians. GMDB is a non-profit community resource and is not linked to any one publisher or journal.

    We politely request that any use of data obtained from the GestaltMatcher Database browser cite the GestaltMatcher flagship paper and any online resources that include the data set provide a link to the browser. There is no need to include us as authors on your manuscript, unless we contributed specific advice or analysis for your work.

    If you would like to use our database and cite our work, please cite our paper and GestaltMacher Database:

    Hsieh, TC., Bar-Haim, A., Moosa, S. et al. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet (2022). https://doi.org/10.1038/s41588-021-01010-x (PDF)