Overview of PHACE Syndrome registry

Genetic analysis of PHACE Syndrome research study

Since 2006, Dr. Dawn Siegel has led a research study and genetic registry focused on studying PHACE Syndrome, a relatively rare condition found in approximately 1,000 people. The disease was not given its own name or diagnosis until 1996.

PHACE Syndrome often has a major impact on patients and families, so studying the causes of this condition will be very valuable.

In 2012, Dr. Siegel and Dr. Denise Metry, a dermatologist at Texas Children's Wisconsin, joined their individual PHACE research programs into a single centralized database to help find answers for this disease. Children's Wisconsin is now the central location for the PHACE registry project.

Purpose of the PHACE Syndrome study


The study is focused on two things:

  • Learn about what problems PHACE Syndrome causes to track how it affects patients over time
  • Study the genetic makeup of patients with PHACE Syndrome to determine why it occurs and how to improve treatment

Those eligible for participation are people who have been diagnosed with definite or possible 

To learn more about this research effort, ask questions of the study learn, or to request enrollment, please contact us. 

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