Dysmorphology at a distance: results of a web-based diagnostic service

the DYSCERNE expert panel; S Douzgou; J Clayton-Smith; S Gardner; R Day; P Griffiths; K Strong; J Amiel; M Baraitser; L Brueton; H Brunner; K Chrzanowska; B Dallapiccola; M Del Campo Casanelles; K Devriendt; D Donnai; D Fitzpatrick; G Gillessen-Kaesbach; G Houge; B Kerr; M Krajewska-Walasek; D Lacombe; P Meinecke; K Metcalfe; G Mortier; S Odent; N Philip; T Prescott; A Raas-Rothschild; A Rauch; O Rittinger; R Salonen; C Schrander-Stumpel; M Suri; K Temple; J Tolmie; I Van Der Burgt; A Verloes; D Wieczorek; M Zenker

doi:10.1038/ejhg.2013.137

Dysmorphology at a distance: results of a web-based diagnostic service

the DYSCERNE expert panel, S Douzgou, J Clayton-Smith, S Gardner, R Day, P Griffiths, K Strong, J Amiel, M Baraitser, L Brueton, H Brunner, K Chrzanowska, B Dallapiccola, M Del Campo Casanelles, K Devriendt, D Donnai, D Fitzpatrick, G Gillessen-Kaesbach, G Houge, B KerrM Krajewska-Walasek, D Lacombe, P Meinecke, K Metcalfe, G Mortier, S Odent, N Philip, T Prescott, A Raas-Rothschild, A Rauch, O Rittinger, R Salonen, C Schrander-Stumpel, M Suri, K Temple, J Tolmie, I Van Der Burgt, A Verloes, D Wieczorek, M Zenker

Research output: Contribution to journal › Article › peer-review

Abstract

In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases submitted consecutively between January 2010 and 2012. Each case was reviewed by an average of five expert reviewers. An average of three possible syndromic diagnoses was suggested per case. In 22.5% of the cases, a consensus clinical diagnosis was reached. Genetic testing was suggested in 70.5% of the cases, whereas other laboratory investigations and diagnostic imaging were recommended in 35.5 and 26% of the cases, respectively. Further specialized opinions were suggested in 23.5% of the cases. Overall, a total of 181 very rare or extremely rare genetic syndromes were considered in the differential diagnosis of the 200 cases. In two cases, the reviewers suggested that the findings represented a new syndrome, and in one of these syndromes the underlying genetic cause was subsequently identified. Other benefits of the submission process included the possibility of directing the case submitters to specific centres for diagnostic testing or participation in research and educational benefit derived for both case submitters and reviewers.European Journal of Human Genetics advance online publication, 10 July 2013; doi:10.1038/ejhg.2013.137.

Original language	English
Journal	European Journal of Human Genetics
DOIs	https://doi.org/10.1038/ejhg.2013.137
Publication status	Published - 10 Jul 2013

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10.1038/ejhg.2013.137

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the DYSCERNE expert panel, Douzgou, S., Clayton-Smith, J., Gardner, S., Day, R., Griffiths, P., Strong, K., Amiel, J., Baraitser, M., Brueton, L., Brunner, H., Chrzanowska, K., Dallapiccola, B., Del Campo Casanelles, M., Devriendt, K., Donnai, D., Fitzpatrick, D., Gillessen-Kaesbach, G., Houge, G., ... Zenker, M. (2013). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2013.137

@article{1820ad1cff84437c98f57d614b50136a,

title = "Dysmorphology at a distance: results of a web-based diagnostic service",

abstract = "In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases submitted consecutively between January 2010 and 2012. Each case was reviewed by an average of five expert reviewers. An average of three possible syndromic diagnoses was suggested per case. In 22.5% of the cases, a consensus clinical diagnosis was reached. Genetic testing was suggested in 70.5% of the cases, whereas other laboratory investigations and diagnostic imaging were recommended in 35.5 and 26% of the cases, respectively. Further specialized opinions were suggested in 23.5% of the cases. Overall, a total of 181 very rare or extremely rare genetic syndromes were considered in the differential diagnosis of the 200 cases. In two cases, the reviewers suggested that the findings represented a new syndrome, and in one of these syndromes the underlying genetic cause was subsequently identified. Other benefits of the submission process included the possibility of directing the case submitters to specific centres for diagnostic testing or participation in research and educational benefit derived for both case submitters and reviewers.European Journal of Human Genetics advance online publication, 10 July 2013; doi:10.1038/ejhg.2013.137.",

author = "{the DYSCERNE expert panel} and S Douzgou and J Clayton-Smith and S Gardner and R Day and P Griffiths and K Strong and J Amiel and M Baraitser and L Brueton and H Brunner and K Chrzanowska and B Dallapiccola and {Del Campo Casanelles}, M and K Devriendt and D Donnai and D Fitzpatrick and G Gillessen-Kaesbach and G Houge and B Kerr and M Krajewska-Walasek and D Lacombe and P Meinecke and K Metcalfe and G Mortier and S Odent and N Philip and T Prescott and A Raas-Rothschild and A Rauch and O Rittinger and R Salonen and C Schrander-Stumpel and M Suri and K Temple and J Tolmie and {Van Der Burgt}, I and A Verloes and D Wieczorek and M Zenker",

year = "2013",

month = jul,

day = "10",

doi = "10.1038/ejhg.2013.137",

language = "English",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

the DYSCERNE expert panel, Douzgou, S, Clayton-Smith, J, Gardner, S, Day, R, Griffiths, P, Strong, K, Amiel, J, Baraitser, M, Brueton, L, Brunner, H, Chrzanowska, K, Dallapiccola, B, Del Campo Casanelles, M, Devriendt, K, Donnai, D, Fitzpatrick, D, Gillessen-Kaesbach, G, Houge, G, Kerr, B, Krajewska-Walasek, M, Lacombe, D, Meinecke, P, Metcalfe, K, Mortier, G, Odent, S, Philip, N, Prescott, T, Raas-Rothschild, A, Rauch, A, Rittinger, O, Salonen, R, Schrander-Stumpel, C, Suri, M, Temple, K, Tolmie, J, Van Der Burgt, I, Verloes, A, Wieczorek, D & Zenker, M 2013, 'Dysmorphology at a distance: results of a web-based diagnostic service', European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2013.137

TY - JOUR

T1 - Dysmorphology at a distance

T2 - results of a web-based diagnostic service

AU - the DYSCERNE expert panel

AU - Douzgou, S

AU - Clayton-Smith, J

AU - Gardner, S

AU - Day, R

AU - Griffiths, P

AU - Strong, K

AU - Amiel, J

AU - Baraitser, M

AU - Brueton, L

AU - Brunner, H

AU - Chrzanowska, K

AU - Dallapiccola, B

AU - Del Campo Casanelles, M

AU - Devriendt, K

AU - Donnai, D

AU - Fitzpatrick, D

AU - Gillessen-Kaesbach, G

AU - Houge, G

AU - Kerr, B

AU - Krajewska-Walasek, M

AU - Lacombe, D

AU - Meinecke, P

AU - Metcalfe, K

AU - Mortier, G

AU - Odent, S

AU - Philip, N

AU - Prescott, T

AU - Raas-Rothschild, A

AU - Rauch, A

AU - Rittinger, O

AU - Salonen, R

AU - Schrander-Stumpel, C

AU - Suri, M

AU - Temple, K

AU - Tolmie, J

AU - Van Der Burgt, I

AU - Verloes, A

AU - Wieczorek, D

AU - Zenker, M

PY - 2013/7/10

Y1 - 2013/7/10

N2 - In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases submitted consecutively between January 2010 and 2012. Each case was reviewed by an average of five expert reviewers. An average of three possible syndromic diagnoses was suggested per case. In 22.5% of the cases, a consensus clinical diagnosis was reached. Genetic testing was suggested in 70.5% of the cases, whereas other laboratory investigations and diagnostic imaging were recommended in 35.5 and 26% of the cases, respectively. Further specialized opinions were suggested in 23.5% of the cases. Overall, a total of 181 very rare or extremely rare genetic syndromes were considered in the differential diagnosis of the 200 cases. In two cases, the reviewers suggested that the findings represented a new syndrome, and in one of these syndromes the underlying genetic cause was subsequently identified. Other benefits of the submission process included the possibility of directing the case submitters to specific centres for diagnostic testing or participation in research and educational benefit derived for both case submitters and reviewers.European Journal of Human Genetics advance online publication, 10 July 2013; doi:10.1038/ejhg.2013.137.

AB - In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases submitted consecutively between January 2010 and 2012. Each case was reviewed by an average of five expert reviewers. An average of three possible syndromic diagnoses was suggested per case. In 22.5% of the cases, a consensus clinical diagnosis was reached. Genetic testing was suggested in 70.5% of the cases, whereas other laboratory investigations and diagnostic imaging were recommended in 35.5 and 26% of the cases, respectively. Further specialized opinions were suggested in 23.5% of the cases. Overall, a total of 181 very rare or extremely rare genetic syndromes were considered in the differential diagnosis of the 200 cases. In two cases, the reviewers suggested that the findings represented a new syndrome, and in one of these syndromes the underlying genetic cause was subsequently identified. Other benefits of the submission process included the possibility of directing the case submitters to specific centres for diagnostic testing or participation in research and educational benefit derived for both case submitters and reviewers.European Journal of Human Genetics advance online publication, 10 July 2013; doi:10.1038/ejhg.2013.137.

U2 - 10.1038/ejhg.2013.137

DO - 10.1038/ejhg.2013.137

M3 - Article

C2 - 23838594

SN - 1018-4813

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

Dysmorphology at a distance: results of a web-based diagnostic service

Abstract

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