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Thank you for your interest in the BWS Registry!
Families who wish to join the BWS Registry must give us permission (consent) for review of medical records and other optional parts of the study. Optional parts include sharing photographs, samples, and contact preferences. Once a family completes a consent form, each family member will be assigned a unique study number. To protect his/her identity, medical information (and samples as applicable) will be stored with this number.
Contact us at BWS [at] chop.edu to talk about your questions.
The Informed Consent Form outlines all parts of the study and reviews your choices for optional consents as well.
- The BWS Registry was developed to improve our understanding and management of Beckwith-Wiedemann syndrome (BWS), hemihypertrophy/lateralized overgrowth, and other disorders.
- The BWS Registry involves collecting medical information and records from patients. To join the registry, families complete a consent form to agree to participate. Once a family joins, we assign them a special number and all information collected is stored under this number to protect confidentiality. We study this information to improve our understanding about BWS and how to better manage the disorder. There are other parts of the study (such as sharing pictures and samples) that are optional and you can choose whether you wish to participate in these parts or not.
About the Consent Form
- Informed Consent (Video) - This presentation reviews the consent form and what is involved in the study.
- Completing the Consent Form (Video) - This presentation will guide you through how to complete the consent form.
Families can join the registry by completing a digital consent form. This online system is secure and your information will be protected. To enroll online please complete the following steps:
- Join the Main Study – Complete this form to join the registry
- Medical Release Form – This form will allow us to collect medical records. Please download this form and return a completed copy to BWS [at] chop.edu. You may complete one form for each physician/specialist or you can complete the bottom portion and provide our team with a list of your physicians/specialists for us to complete the top for each.
- Return of Results – If you have leftover samples or plan to share samples as part of the study, you have the opportunity to complete this questionnaire about your wishes about returning possible results of research testing. (Please note: If your child is aged 15 years or older, he/she will need to complete a portion of this form)
Complete a Paper Form
Completed forms can be returned to the study team by email, fax, or mail. If you require a shipping label to return any forms or medical records, please contact the study team.
Email: BWS [at] chop.edu
Fax: 215-590-3298 (ATTN: BWS Registry)
ATTN: BWS Registry
Dr. Jennifer Kalish
Colket Translational Research Building
3501 Civic Center Blvd.
3rd Floor, Office 3028
Philadelphia, PA 19104-4318
Developed for patients, families, and physicians, these information sheets provide specific information and education and Beckwith-Wiedemann syndrome (BWS).
Overview – This sheet provides an overview of the clinical and molecular diagnosis, management, and tumor screening guidelines in Beckwith-Wiedemann syndrome (BWS).
This sheet provides an overview of the various causes of BWS and molecular tests available.
- IC2 LOM – Designed for patients with BWS due to loss of methylation/hypomethylation at imprinting control region 2 (IC2 LOM), this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
- IC1 GOM - Designed for patients with BWS due to gain of methylation/hypermethylation at imprinting control region 1 (IC1 GOM), this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
- pUPD11 - Designed for patients with BWS due to paternal uniparental disomy of chromosome 11p (pUPD11), this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
- CDKN1C mutation - Designed for patients with BWS due to a CDKN1C mutation, this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
- Tumor Risk and Screening - This sheet provides an overview of the tumor risk for each molecular subtype, managing tumor risk, types of tumors commonly seen in BWS, tumor screening guidelines and interpretation of AFP values.
- Macroglossia and OSA - This sheet provides information about macroglossia (an enlarged tongue), specialists that can evaluate and manage macroglossia, tongue reduction, and obstructive sleep apnea (OSA).
- Lateralized Overgrowth (Hemihypertrophy) - This sheet provides the definition, causes, molecular testing, mosaicism, management, and screening recommendations for patients with body asymmetry (lateralized overgrowth).
The sheet provides information on the diagnosis and management of hypoglycemia and hyperinsulinism and what causes it in patients with Beckwith-Wiedemann syndrome (BWS).
The BWS Educational Coloring Book
Developed through conversations with families of children with Beckwith-Wiedemann Syndrome (BWS), this coloring book includes simple illustrations and easy-to-understand descriptions of the genetic and epigenetic causes of BWS, as well as information on managing BWS.
This video, an animated version of the BWS coloring book, provides an introduction to the genetics and epigenetics of BWS, an explanation of the characteristics of BWS, and tips for managing BWS.