NCBRS CLINICAL PHOTOS FOR DYSMORPHOLOGY STUDY!
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Help us build a clearer picture of NCBRS!
Every family’s journey with NCBRS provides valuable insight. At the NCBRS Worldwide Foundation, we’re working alongside international geneticists and clinicians to build the largest global collection of clinical photos of individuals with NCBRS. By looking closely at facial and skeletal features across different ages, we hope to improve diagnostic accuracy, better understand how the condition evolves over time, and strengthen future genetic research. Ultimately, this research aims to help clinicians make earlier, more precise diagnoses and pave the way for better clinical care standards worldwide. To make this possible, we need your help. By sharing your family's experience, you play a vital role in shaping a better future for the entire NCBRS community. |
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What images can you share?
If you'd like to participate, we are looking for clear photos of your family member with NCBRS:
How is your privacy protected?
We know these photos are personal, and we treat them with complete care and respect.
How to take part?
Participating takes just a few minutes:
Lead Researchers?
This study is a collaborative effort between:
If you'd like to participate, we are looking for clear photos of your family member with NCBRS:
- Facial photos: Both straight-on (frontal) and side profile photos. If you have pictures from different stages of life—infancy, childhood, teen years, or adulthood—that is immensely helpful.
- Hands and feet/legs: Photos showing fingers, toes, joints, and general structure.
- Dates or ages: A quick note on how old they were (or the year) in each photo, if you happen to know.
How is your privacy protected?
We know these photos are personal, and we treat them with complete care and respect.
- Strictly for research: Photos will only be used by our approved research team to analyse clinical features.
- Secure storage: All files are kept on encrypted, secure medical and academic systems.
- No public sharing without your say-so: We will never publish or present an image in a medical journal, conference, or website without asking you first and getting your separate written consent.
How to take part?
Participating takes just a few minutes:
- Get the consent form: Email Dr. Stephanie Efthymiou at [email protected].
- Fill it out: Read and sign the form so we have a record of your permission.
- Send your photos: Email your photos and the completed form to [email protected].
- Please use the subject line: "NCBRS Photo Submission – [Patient Initials]"
Lead Researchers?
This study is a collaborative effort between:
- Dr. Stephanie Efthymiou — Senior Research Fellow (UCL Queen Square Institute of Neurology, London, UK)
- Prof. Paola Nicolaides — Clinical Professor of Paediatric Neurology (University of Nicosia Medical School, Cyprus)
- Dr. Mohnish Suri — Consultant Clinical Geneticist (Nottingham University Hospitals NHS Trust, UK)
Have questions before deciding?
That is completely fine. If you want to review the consent form first or just ask a few questions before committing, please reach out directly to Stephanie at [email protected].
Thank you so much for your time and for helping us advance care and answers for the NCBRS community.
“ALONE WE’RE RARE, TOGETHER WE ARE STRONG”
That is completely fine. If you want to review the consent form first or just ask a few questions before committing, please reach out directly to Stephanie at [email protected].
Thank you so much for your time and for helping us advance care and answers for the NCBRS community.
“ALONE WE’RE RARE, TOGETHER WE ARE STRONG”
