Actively Recruiting
Natural History of Craniofacial Anomalies and Developmental Growth Variants
Led by National Institute of Dental and Craniofacial Research (NIDCR) · Updated on 2026-03-17
2400
Participants Needed
1
Research Sites
1602 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
Natural History of Craniofacial Anomalies and Developmental Growth Variants
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 2 to under 100 years with craniofacial anomalies or abnormalities
- Affected family members with craniofacial anomalies of any degree of relationship
- Unaffected family members aged 2 to 100 years without craniofacial anomalies
- Healthy volunteers aged 6 to under 100 years in good general health
- Able to provide consent or have a legally authorized representative provide consent for minors
- Absence of craniofacial congenital anomaly or malocclusion for healthy volunteers
- No family history of craniofacial syndrome for healthy volunteers
You will not qualify if you...
- History of facial trauma requiring surgical treatment and facial reconstruction
- Refusal to undergo both genetic testing and cone beam CT imaging (must agree to at least one)
- Female healthy volunteers who are pregnant or nursing
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
P
Pamela M Orzechowski, R.N.
CONTACT
K
Konstantinia Almpani, D.D.S.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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