An observational study in Prognathism, Retrognathism and Dentofacial Deformities, sponsored by National Institute of Dental and Craniofacial Research (NIDCR). Recruiting at 1 site in United States. Open to participants aged 2 Years to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-28.
Sponsored by National Institute of Dental and Craniofacial Research (NIDCR) · Observational
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
Study Description:
This is a natural history study that will examine craniofacial anomalies that affect the normal development of the facial skeleton, including birth defects and dentofacial developmental abnormalities that express themselves with the growth of the individual. Craniofacial anomalies may be rare and present at birth, such as hemifacial microsomia (1 in every 7500 live births), or common, such as dentofacial deformities including the Habsburg Jaw or mandibular prognathism (1% of the US population) that becomes apparent as a child enters puberty. These are striking disorders as they involve the face and surrounding structures, which is a focal point of self-identity and are intimately tied to quality of life and daily function.
Objectives:
Primary Objective:
To characterize and determine genetic variants of rare and common craniofacial anomalies
Secondary Objectives:
Endpoints:
Primary Endpoint:
Phenotypic and genomic characterization of craniofacial anomalies will be performed. Phenotypes from affected subjects and healthy volunteers will be assessed using extensive clinical evaluations, 3D cone-beam computed tomography-based geometric morphometric, cephalometric analyses, and surface morphology. Genetic variants will be identified through genomic analysis and compared with genetic patterns obtained from healthy volunteers.
Secondary Endpoints:
11 studies on the registry are indexed under Prognathism; 6 are open to participants now.
Browse Prognathism studies →National Institute of Dental and Craniofacial Research (NIDCR) is the lead sponsor of 94 studies on the registry; 9 are open to participants now.
Of its 8 completed or terminated interventional studies of FDA-regulated products, 5 (63%) have results posted.
Counted across the registry records on this site, refreshed daily.
-Subjects w/craniofacial anomalies or dentofacial deformities -Families of subjects with craniofacial anomalies or dentofacial deformities -Case Controls
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
For Subjects:
For Unaffected Family Members:
For Healthy Volunteers:
In good general health.
->= 6 years old to \< 100 years old.
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation in this study:
For All Participants:
For Healthy Volunteers:
-Female volunteers who are pregnant or nursing.
hemifacial microsomia
mandibular prognathism
Database or registry
using both extensive clinical evaluations, 3D cone-beam computed tomography-based geometric morphometric and cephalometric analyses, and surface morphology
Time frame: 17 years
Plan to share: Undecided
Started Apr 2016 (actual). Primary completion is estimated for Dec 2046, 368 months after the start.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
National Institute of Dental and Craniofacial Research (NIDCR) →