Recruiting

Observational Study

Sponsor:

National Institute of Dental and Craniofacial Research (NIDCR)

Code:

NCT02639312

Conditions

Prognathism

Retrognathism

Dentofacial Deformities

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Accepted

Study Details

Brief 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

Study ID

NCT02639312

Start date

Apr 18, 2016

Status verified date

Mar 13, 2026

Completion date

Dec 31, 2046

Anticipated

Primary completion date

Dec 31, 2046

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

2400 participants

Anticipated

Interventions and Outcome Measures

Arms

1

hemifacial microsomia

2

mandibular prognathism

Primary outcome measure

  • Database or registry [ Time Frame: 17 years ]

Central Contacts and Locations

Central contacts

Pamela M Orzechowski, R.N.

(301) 402-7373ps363q@nih.gov

Konstantinia Almpani, D.D.S.

(301) 827-1647nadine.almpani@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Institute of Dental and Craniofacial Research (NIDCR)

Last update posted

Aug 28, 2026

Last verified

Mar 13, 2026

Keywords

  • Craniofacial
  • Microsomia
  • Mandibular
  • Facial Defects
  • Hasburg Jaw
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Institute of Dental and Craniofacial Research (NIDCR) on 2026-08-28.