Natural History of Craniofacial Anomalies and Developmental Growth Variants
Recruiting now
Conditions studied: Prognathism, Retrognathism, Dentofacial Deformities
In brief
Background: 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. Objectives: To learn more about abnormal development of the face, head, and neck. To determine their genetic variants. Eligibility: 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 Design: Participants will be screened with medical history and physical exam focusing on head, face, and neck 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: Medical history Physical exam Questionnaires Oral exam 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. Participants will 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
Key facts
- Study ID
- NCT02639312
- Run by
- National Institute of Dental and Craniofacial Research (NIDCR)
- People needed
- 2400
- Starts
- 2016-04-18
- Expected to finish
- 2046-12-31
- Last updated by the study team
- 2026-03-17
Who can join
Age: 2 and older, up to 100. Sex: any. Healthy volunteers: accepted.
You may not qualify if…
- An individual who meets any of the following criteria will be excluded from participation in this study:
- For All Participants:
- A history of facial trauma requiring surgical treatment and facial reconstruction.
- Refusal for both genetic testing and CBCT imaging. Participants must agree to at least one of the two (one or the other is required to participate).
- For Healthy Volunteers:
- Female volunteers who are pregnant or nursing.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
Full record on ClinicalTrials.gov
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