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Gabriella Miller Kids First Pediatric Research Program for Infantile Hemangiomas Associated with Multi-Organ Structural Birth Defects
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Dawn Siegel, MD,  
Project

About This Dataset
Infantile hemangiomas are the most common benign vascular tumor in infants, affecting 4-5% of children. Thirty percent of segmental infantile hemangiomas on the face and scalp are associated with birth defects of multiple organs. This condition is known as PHACE, an acronym for posterior fossa brain malformations, segmental facial hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting. Genomic analysis of PHACE will inform treatment and expand knowledge about the causes of birth defects affecting the brain, arteries, heart, eye, midline development and hearing. The knowledge gained in this study will be used to drive strategies for prevention and provide critical targets for treatments for a range of birth defects and infantile hemangiomas.
Core Data Elements
Number of Cases
274
Case Sex
Not Reported (274)
Case Age At Diagnosis
Pediatric and Young Adult (<40 years) (274)
Case Race
Not Reported (274)
Case Ethnicity
Not Reported (274)
Case Disease Diagnosis
Hemangioma (274)
Case Tumor Site
Not Reported (274)
Number of Samples
274
Sample Assay Method
Whole Genome Sequencing (274)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
X01HL140519-01
Gabriella Miller Kids First Pediatric Research Program
Charts
Not Reported (274)
274Not Reported