Dysmorphology Workshops

The first ESHG Dysmorphology workshop run in Genoa, in 1997, by Dian Donnai and Robin Winter, with about 50 attendees and an ‘expert panel’ that was asked to sit on the front row. Gradually, the number of attendees increased, as well as the number of cases presented and there have been two workshops at each conference for many years with attendance reaching 450 per session, run by Dian Donnai and Jill Clayton-Smith.

We invite presenters, participants and the wider ESHG community to the two Dysmorphology Workshops to be held during the hybrid 2025 ESHG conference in Milan!

Participants can submit their case in advance of the meeting, via an ad hoc, online submission system until March 13, 2025 at 23:59 CET.

Each presenter is allowed to submit one abstract. To be shortlisted for presentation in one of the following workshop slots, please submit an abstract of consented, distinctive unsolved or instructive solved case.

• WS02 Dysmorphology 1 | Saturday, May 24, 2025 | 08:30-10:00 hrs CEST
• WS12 Dysmorphology 2 | Monday, May 26, 2025 | 08:30-10:00 hrs CEST

All submissions will be reviewed by expert dysmorphologists and shortlisted for presentation by the chairs Sofia Douzgou Houge, Arjan Bouman and Peter Krawitz. We will prioritise cases

1. of very distinctive and/or extremely rare dysmorphic patterns
2. from Low or Middle Income Countries
3. of significant academic and/or educational value
4. with prior GestaltMatcher analysis

The submitters will be notified mid April 2025 through the email address provided during submission whether their case has been accepted for presentation. Those that have been selected for presentation during the Dysmorphology workshop at ESHG 2025 will receive a Power Point template with the structure they need to follow to prepare their presentation. Every presenter is expected to be present live at the dysmorphology Workshop in Milan to present their case.

We are delighted to announce that the best case presentation from a trainee in medical/clinical genetics will be awarded the ‘Dian Donnai and Jill Clayton-Smith’ prize of a EUR 600, a diploma, a free participation at the next conference and a free membership for one year during the ESHG Awards session.

We look forward to seeing you in Milan!

Please read the instructions carefully.

Case Format for submission

• The text must not exceed 250 words.
• Do not include the title and authors in the case text.
• Graphics or tables are NOT allowed.
• You must follow the following structure in your submission:

Known / unknown

Patient
Sex, age

Clinical summary
Relevant medical history
Prenatal  / antenatal
Development
Growth
Behavioral concerns
Morbidities
Malformations
Other relevant details

Family history                  

Physical exam
Growth parameters
Dysmorphic features

Investigations
Genetic investigations (include details and use HUGO standards regarding genetic variants)
Metabolic screen
Radiology
Other relevant laboratory investigations

When entering the submission portal…

You need an account to be able to submit your Case. On the home page of the portal you will be asked to:

• If you are currently a member or have submitted an abstract for ESHG 2025, you can use the same login details.
• If you have been a member of ESHG in the last 7 years, you already have an account. Click on “Forgot your password” and enter your e-mail address. You will receive an e-mail to reset your password. Once you have updated your password you can log in with your new credentials.
• If none of the above applies, click on “Create new account”. Fill in all required fields and save your personal information by clicking “Finish”. Following this, you will receive an e-mail with your personal account activation link (ATTENTION: link is only valid for 24 hours!). Once you have activated your account you can log in with your email address and password.
  Note: Please also check your SPAM folder for the account activation email.

How to start the case submission…

Once you have logged into the submission portal, click on the “+New” button to start your abstract submission. If you cannot see this button, please make sure you are located in the tab labelled “Submissions”.

Read through the conditions carefully and confirm them.

SUBMISSION STEP 1: TITLE

• In the title, please use capital letters ONLY where necessary (e.g. “Detection of two novel large mutations in SLC7A9 by semi-quantitative fluorescent multiplex PCR”).
• Use italics only where required by nomenclature.
• DO NOT add line breaks in the title.

SUBMISSION STEP 2: AUTHORS

• First you need to add the presenting author information. The contact details will be prepopulated from the profile information you supplied. In case you will not present the abstract at the conference, you can overwrite the information.
• In the next step you can add institutions, add co-authors, change who is presenting (marked in green), change the order of authors or add a consortium.
• To add a new author click on “Add Author” and check if the person is already in the system by entering their email address and clicking on “Search”.
  • If the person is already in the system, you can select them from the provided list by clicking on “Add”. Review the prepopulated contact information, add any missing information and potential conflicts of interest, save and continue.
  • If the person is not in the system yet, use the button “Enter your Author here!”, add all information, save and continue.
• A maximum of 50 authors with 3 institutions per author is allowed.
• Remember that you may be presenting author of only one case, but co-author of any number of abstracts.
• DISCLOSURE INFORMATION: In order to help readers form their own judgments of potential bias in published abstracts, submitters are asked to declare any competing financial interests of all authors. Contributions of up to EUR 10.000,- (or equivalent value in kind) per year per company are considered “Modest”. Contributions above EUR 10.000,- per year are considered “Significant”.

SUBMISSION STEP 3: CASE TEXT

The text must follow the structure provided above.

SUBMISSION STEP 4: ADDITIONAL INFORMATION

1. Select your preferred session from the dropdown.

2. Provide information about the submission type.

SUBMISSION STEP 5: SUBMISSION SUMMARY

• Once you have entered all information and reached the summary page, your submission has been received. You will receive a submission confirmation email and it is recommended to save it for your records.
• The summary page will display all information related to your case. You may save it as a PDF for your records.
• The system also has an e-mail confirmation feature. Simply click the appropriate link on the summary page and fill in your email address(es) in the appropriate box(es).
• If you choose to delete the submission, this can be done at the bottom of this page. Please note that you will not be able to retrieve deleted submissions.

General Information on Case Submission

With submitting your case via the online submission system you agree to the following:

• you have obtained appropriate consent for the case submission to ESHG 2025
• if your case will be selected for presentation, this will be live streamed via the virtual conference platform which is accessible to all registered participants

TECHNICAL REQUIREMENTS

Cases can only be submitted online via the official online submission form.

Cases sent by email or mail will not be accepted. No exceptions will be made.

AFTER THE SUBMISSION

The reviewers will judge the cases according to scientific, translational and clinical value.

The submitters will be notified mid April 2025 through the email address provided during submission whether their case has been accepted for presentation. Those that have been selected for presentation during the Dysmorphology workshop will receive a Power Point template with the structure they need to follow to prepare their presentation.

If you need to withdraw your case, a written statement, reflecting the reasons of this decision must be sent to conference@eshg.org.

All case presenters must be registered and pay the appropriate registration fee.

Support

For support during the submission process, please send an email to conference@eshg.org or call +43 1 405 13 83 14 between 9.00 – 17.00 hrs CEST.