What is this study trying to find out about craniofacial anomalies?

This study is investigating how craniofacial anomalies develop and their genetic factors. Researchers are comparing people with these conditions to family members and healthy volunteers to better understand these disorders. The study is sponsored by the National Institute of Dental and Craniofacial Research (NIDCR) to help improve knowledge of facial development and related genetic variants.

Who may be eligible for this craniofacial anomalies clinical trial?

People aged 2 to 100 years with craniofacial anomalies, unaffected family members of any age from 2 to 100 years, and healthy volunteers aged 6 to under 100 years may be eligible. Participants must be willing to provide consent and agree to genetic testing or imaging. Please review eligibility criteria for more details.

Is there any cost to participate in this craniofacial anomalies clinical trial?

Study-related care, including all tests and procedures, is provided at no cost. However, personal expenses such as travel or accommodation may not be covered and can vary for each participant.

Actively Recruiting

Age: 2Years - 100Years

All Genders

Healthy Volunteers

ID02639312

Study on Craniofacial Abnormalities and Facial Development Variations Including Genetic and Growth Pattern Analysis

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

2400

Participants Needed

Research Sites

N/A

Total Duration

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

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

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

Research Team

Pamela M Orzechowski, R.N.

Konstantinia Almpani, D.D.S.

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