PrognathismNCT02639312
Natural History of Craniofacial Anomalies and Developmental Growth Variants
An observational study of Prognathism and Retrognathism, run by National Institute of Dental and Craniofacial Research (NIDCR) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Prognathism, Retrognathism, Dentofacial Deformities
- How many people
- 2,400 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Apr 2016to 31 Dec 2046
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: -Subjects w/craniofacial anomalies or dentofacial deformities -Families of subjects with craniofacial anomalies or dentofacial deformities -Case Controls
Who may be able to join
- 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.
Show all 13Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
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.
Read more
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
Read the detailed description
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:
- To establish a curated craniofacial phenomic/genomic database
- To collect data related to clinically indicated procedures and care performed at the NIH
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:
- To create a database with phenotypic and genetic data, collected from the long-term follow up of subjects (females and males) with craniofacial disorders and healthy volunteers
- To link the data with their clinical information to understand the craniofacial disorders.
- Conditions
- Prognathism, Retrognathism, Dentofacial Deformities
- Keywords
- Craniofacial, Microsomia, Mandibular, Facial Defects, Hasburg Jaw, Natural History
- Medical subject headings
- Prognathism, Retrognathia, Dentofacial Deformities, Fetal Growth Retardation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | hemifacial microsomia | |
| 2 | mandibular prognathism |
What is being measured
The primary outcome is the main question the study is designed to answer.
Database or registry
using both extensive clinical evaluations, 3D cone-beam computed tomography-based geometric morphometric and cephalometric analyses, and surface morphology
Measured: 17 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Dec 2015 (estimated)
- Study start18 Apr 2016
- Primary completion31 Dec 2046 (estimated)
- Study completion31 Dec 2046 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for PrognathismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 2,400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Konstantinia Almpani, D.D.S., Principal investigator, National Institute of Dental and Craniofacial Research (NIDCR)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02639312
- Sponsor's protocol ID
- 160040
- Other IDs
- 16-D-0040
- Status last verified
- 29 Sep 2026
- First submitted
- 23 Dec 2015
- Last updated
- 28 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Proffit WR, Fields HW Jr, Moray LJ. Prevalence of malocclusion and orthodontic treatment need in the United States: estimates from the NHANES III survey. Int J Adult Orthodon Orthognath Surg. 1998;13(2):97-106.
PubMed 9743642Cruz RM, Krieger H, Ferreira R, Mah J, Hartsfield J Jr, Oliveira S. Major gene and multifactorial inheritance of mandibular prognathism. Am J Med Genet A. 2008 Jan 1;146A(1):71-7. doi: 10.1002/ajmg.a.32062.
PubMed 18074368Frazier-Bowers S, Rincon-Rodriguez R, Zhou J, Alexander K, Lange E. Evidence of linkage in a Hispanic cohort with a Class III dentofacial phenotype. J Dent Res. 2009 Jan;88(1):56-60. doi: 10.1177/0022034508327817.
PubMed 19131318Lee E, Crayton M, Lee JS, Almpani K. Quantitative Assessment Protocol for Facial Soft Tissue Volumetric Changes with Stereophotogrammetry. J Vis Exp. 2025 Dec 9;(226). doi: 10.3791/69204.
PubMed 41460808
Study at a glance
From the registry record, last updated by the sponsor on 28 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Craniofacial Anomalies and Developmental Growth Variants
- ClinicalTrials.gov ID
- NCT02639312
- Acronym / sponsor ID
- 160040
- Conditions
- Prognathism, Retrognathism, Dentofacial Deformities
- Keywords
- Craniofacial, Microsomia, Mandibular, Facial Defects, Hasburg Jaw, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,400 participants (estimated)
- Lead sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)US National Institutes of Health
- Study start
- 18 Apr 2016 (actual)
- Primary completion
- 31 Dec 2046 (estimated)
- Study completion
- 31 Dec 2046 (estimated)
- First posted
- 24 Dec 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
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:
- To establish a curated craniofacial phenomic/genomic database
- To collect data related to clinically indicated procedures and care performed at the NIH
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:
- To create a database with phenotypic and genetic data, collected from the long-term follow up of subjects (females and males) with craniofacial disorders and healthy volunteers
- To link the data with their clinical information to understand the craniofacial disorders.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –hemifacial microsomia |
| 2 | – | –mandibular prognathism |
Who may qualify
- Ages
- 2 to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- -Subjects w/craniofacial anomalies or dentofacial deformities -Families of subjects with craniofacial anomalies or dentofacial deformities -Case Controls
Key inclusion criteria (13 listed)
- 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.
- 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.
Key exclusion criteria (6 listed)
- An individual who meets any of the following criteria will be excluded from participation in this study:
- 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).
- -Female volunteers who are pregnant or nursing.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Database or registry
Time frame: 17 years
using both extensive clinical evaluations, 3D cone-beam computed tomography-based geometric morphometric and cephalometric analyses, and surface morphology
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Oct 2026.
- Background: PubMed 9743642Proffit WR, Fields HW Jr, Moray LJ. Prevalence of malocclusion and orthodontic treatment need in the United States: estimates from the NHANES III survey. Int J Adult Orthodon Orthognath Surg. 1998;13(2):97-106.
- Background: PubMed 18074368Cruz RM, Krieger H, Ferreira R, Mah J, Hartsfield J Jr, Oliveira S. Major gene and multifactorial inheritance of mandibular prognathism. Am J Med Genet A. 2008 Jan 1;146A(1):71-7. doi: 10.1002/ajmg.a.32062.
- Background: PubMed 19131318Frazier-Bowers S, Rincon-Rodriguez R, Zhou J, Alexander K, Lange E. Evidence of linkage in a Hispanic cohort with a Class III dentofacial phenotype. J Dent Res. 2009 Jan;88(1):56-60. doi: 10.1177/0022034508327817.
- Derived from this study: PubMed 41460808Lee E, Crayton M, Lee JS, Almpani K. Quantitative Assessment Protocol for Facial Soft Tissue Volumetric Changes with Stereophotogrammetry. J Vis Exp. 2025 Dec 9;(226). doi: 10.3791/69204.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Konstantinia Almpani, D.D.S. principal investigator
National Institute of Dental and Craniofacial Research (NIDCR)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Prognathism and Retrognathism, run by National Institute of Dental and Craniofacial Research (NIDCR) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Pamela M Orzechowski, R.N. ((301) 402-7373, pamela.orzechowski@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Database or registry (time frame: 17 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02639312, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Oct 2026.