Some head and facial abnormalities are rare and present at birth. Others are more common, and
may not show up until puberty. These conditions have different causes and characteristics.
Researchers want to learn more about these conditions by comparing people with face, head,
and neck abnormalities to family members and to healthy volunteers without such conditions.
To learn more about abnormal development of the face, head, and neck. To determine their
People who have not had surgery for facial trauma:
People ages 2 and older with craniofacial abnormalities (may participate offsite)
Unaffected relatives ages 2 and older
Healthy volunteers ages 6 and older
Participants will be screened with medical history and physical exam focusing on head, face,
Participants may be followed for several years. Visits may require staying near the clinic
for a few days.
A visit is required for the following developmental stages, along with follow-up visits:
Age 2 6
Age 6 10
Age 11 17
Age 18 and older
Visits may include:
Blood and urine tests
Cheek swab: a cotton swab will be wiped across the inside of the cheek several times.
Cone beam CT scan (CBCT): x-rays create an image of the head, face, teeth, and neck.
stand still or sit on a chair for about 20 minutes while the scanner rotates around the head.
Photos of the head and face
Offsite participants will provide:
Copies of medical and dental records
Leftover tissue samples from previous surgery
Blood sample or cheek swab