Actively Recruiting

Age: 2Years - 100Years
All Genders
Healthy Volunteers
ID02639312

Natural History of Craniofacial Anomalies and Developmental Growth Variants

Led by National Institute of Dental and Craniofacial Research (NIDCR) · Updated on 2026-03-17

2400

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

This research aims to understand the development of craniofacial anomalies, which are conditions affecting the face, head, and neck. These anomalies vary from rare birth defects to more common developmental differences that appear around puberty. The study focuses on identifying genetic variants and creating a detailed database to better characterize these conditions and their impact on growth and facial structure. It includes both individuals with these abnormalities and comparisons with family members and healthy volunteers. Participants include people with craniofacial anomalies, unaffected family members, and healthy volunteers. The study involves multiple visits at key developmental stages: ages 2-6, 6-10, 11-17, and 18 and older. Visits may include medical history review, physical and oral exams, questionnaires, blood and urine tests, cheek swabs, cone beam CT scans, and photos. Offsite participants provide medical and dental records, leftover tissue samples, and biological samples. Participants may be followed for several years, with some visits requiring a few days near the clinic. Researchers will assess physical features using clinical evaluations and imaging techniques, while genetic data will be collected and analyzed. The main outcome is the creation of a comprehensive database of phenotypic and genetic information. This long-term study helps link clinical care with genetic understanding of craniofacial disorders.

CONDITIONS

Brief Title

Natural History of Craniofacial Anomalies and Developmental Growth Variants

Who Can Participate

Age: 2Years - 100Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Age greater than 2 years and less than 100 years with craniofacial anomalies or abnormalities
  • Able to provide consent or have a legally authorized representative provide consent for minors
  • Unaffected family members aged 2 to 100 years with a family relationship to a subject with craniofacial anomalies
  • Healthy volunteers aged 6 to less than 100 years in good general health
  • Healthy volunteers must have no craniofacial congenital anomalies, malocclusion, or family history of craniofacial syndromes
  • Consent or legally authorized representative consent for all participants
Not Eligible

You will not qualify if you...

  • History of facial trauma requiring surgical treatment and reconstruction
  • Refusal to participate in both genetic testing and cone beam CT imaging; participation requires agreeing to at least one
  • Pregnant or nursing healthy female volunteers

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Initial assessment period

Participants undergo extensive clinical evaluations including 3D cone-beam computed tomography-based geometric morphometric, cephalometric analyses, and surface morphology to characterize craniofacial anomalies.

1 to 2 visits depending on the extent of evaluations

Long-term Monitoring

Duration - Up to 17 years

Participants are followed over time to collect and update phenotypic and genetic data related to craniofacial anomalies and developmental growth variants.

Periodic visits as scheduled for ongoing assessments

Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

P

Pamela M Orzechowski, R.N.

K

Konstantinia Almpani, D.D.S.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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