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Natural History of Craniofacial Anomalies and Developmental Growth Variants

NCT02639312 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 2400

Last updated 2026-03-17

No results posted yet for this study

Summary

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

  • Prognathism
  • Retrognathism
  • Dentofacial Deformities

Sponsors & Collaborators

  • National Institute of Dental and Craniofacial Research (NIDCR)

    lead NIH

Principal Investigators

  • Konstantinia Almpani, D.D.S. · National Institute of Dental and Craniofacial Research (NIDCR)

Eligibility

Min Age
2 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-04-18
Primary Completion
2046-12-31
Completion
2046-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02639312 on ClinicalTrials.gov