Craniofacial Disorders and Genetic Causes

Whole Genome Sequencing for Children and Family Members to Identify the Genetic Basis for Heritable Craniofacial Disorders

Protocol Description

This study uses whole genome sequencing (WGS) to help researchers identify inherited genetic causes of craniofacial disorders. WGS is a relatively new type of test that searches through genetic material for DNA changes that can cause disease. Researchers will compare WGS information obtained from blood samples of family members who have a congenital craniofacial disorder to family members who do not have a congenital craniofacial disorder.

Eligibility Criteria

Children who have been diagnosed with a congenital craniofacial disorder that can be inherited, along with their family members, are invited to take part in the study.
Males and Females: All ages


A one-time blood sample will be collected along with medical record information for participants.
Visits: 1
Duration: Not applicable

Status: Open to Enrollment

Additional Information

Plastic Surgery Research

Primary Investigator

James R. Gilbert, PhD
Joseph E. Losee, MD, FACS, FAAP

Contact Information

For more information about the study or enrollment, please contact:
Research Specialist Jennifer Fantuzzo, BS