Genetic Analysis of PHACE Syndrome

  • Principal Investigator: Dr. Dawn H. Siegel
  • Phone number: (414) 955-2917
  • Fax number: (414) 456-6518
  • Full street address: 9000 West Wisconsin Avenue, Milwaukee, WI 53226
  • E-mail address:
  • Co-investigators:
    • Francine Blei, MD
    • Gisela Chelimsky, MD
    • Yvonne Chiu, MD
    • Keith Choate, MD
    • Beth A. Drolet, MD
    • Ilona Frieden, MD
    • Peter Frommelt, MD
    • Christopher Hess, MD
    • Geoffrey Heyer, MD
    • Kristi Holland, MD
    • Mohit Maheshwari, MD
    • Denise Metry, MD
    • Aoy Mitchell, MD
    • Joseph Shieh, MD

We invite you to take part in this research study. Taking part in this research study is your decision. You do not have to participate. You may stop or decide to leave the study at any time. If you stop or leave the study, you will not be penalized.

You will still receive any treatments, help or benefits coming to you. You will not benefit or be helped from being in this research study. The information in this form explains what will happen to you in the study. The researchers may be reviewing this form with you and can answer any questions you may have. This form also tells you about the risks, discomforts and other information about the study. Medical language is hard to understand for most people. If there is anything that you do not understand or are unsure about, please ask questions. You should only agree to take part in this research study and sign the consent form if you understand what will happen to you, what the risks are, and that your questions have been answered.


  • The word "you" in this document is used to refer to any of the following: a) the subject or their legal representative, b) the subject's biologic parents, c) other relations to the subject including siblings and grandparents who are being consented for enrollment.
  • To get to the consent form, you will need to read through each page and click the "Continue" button found at the bottom.

A. What is the problem?

You are being asked to take part in this study because you or a member of your family may have PHACE syndrome or have a large hemangioma with other associated arterial or congenital anomalies. PHACE syndrome is a vascular birthmark on the face (a hemangioma) along with at least one of the following additional medical problems: brain malformation, arterial blood vessel abnormalities, heart defects, eye abnormalities, a sternal malformation or a pit or scar on the midline chest or abdomen.

Study doctors are collecting DNA in the form of blood and cheek cells and tissue samples, as well as medical information from families known or believed to have a PHACES syndrome or a large hemangioma with other anomalies. DNA is like a big instruction book that tells your body how to grow and develop. DNA carries genes. Genes are the structures that carry our genetic information that determine many characteristics like eye color or height. Genes are the instructions for making proteins, the building blocks of our bodies.

Differences in genes help to explain differences between people and can help explain some diseases. When DNA is copied from parents to children, it isn't always copied exactly the same. We hope that by studying genes we can learn more about PHACE syndrome and similar issues associated with large hemangiomas.

We are asking you to provide cells for an international cell/tissue study registry. Medical information needs to be examined by specialists in multiple medical fields to be fully understood. What we learn from this study will help us to provide people with PHACE syndrome and their relatives more detailed and accurate medical information, and hopefully will lead to better treatments in the future.