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Natural History of Craniofacial Anomalies and Developmental Growth Variants

National Institute of Dental and Craniofacial Research (NIDCR) · NCT02639312

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 2–100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
2400
US sites recruiting
1
Study start
April 18, 2016
Record last updated
October 1, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study 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: Prognathism; Retrognathism; Dentofacial Deformities

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria
  • INCLUSION CRITERIA:

For Subjects

  • Age > 2 to \< 100 with craniofacial anomalies/abnormalities. Affected family member (defined as an individual with a demonstrable relationship, any family relationship no matter how distant, with the above subject in the pedigree) who expresses craniofacial anomalies will be classified as a subject.
  • Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent.

For Unaffected Family Members

  • These family members are defined as individuals with a demonstrable relationship (any family relationship, no matter how distant) with a proband subject by pedigree who do not express craniofacial anomalies.
  • >= 2 years old to \<= 100 years old.
  • Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent.

For Healthy Volunteers

  • In good general health.

->= 6 years old to \< 100 years old.

  • Able to provide consent, or in the case of minors, have a legally authorized representative to provide consent.
  • Absence of a craniofacial congenital anomaly or malocclusion.
  • No family history of a craniofacial syndrome.

EXCLUSION CRITERIA

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.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · ccopr@nih.gov

Study contacts (from the official record)

  • Pamela M Orzechowski, R.N. · (301) 402-7373 · ps363q@nih.gov
  • Konstantinia Almpani, D.D.S. · (301) 827-1647 · nadine.almpani@nih.gov
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Natural History of Craniofacial Anomalies and Developmental Growth… (NCT02639312) | Bored Studies