Natural History of Craniofacial Anomalies and Developmental Growth Variants

NCT02639312 | Recruiting

• 2 other identifiers: 16004016-D-0040
• Study Type: observational
• Target: 2,400
• Locations: 1 country
• Sites: 1

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Database or registry

  using both extensive clinical evaluations, 3D cone-beam computed tomography-based geometric morphometric and cephalometric analyses, and surface morphology

  17 years

Study Arms (2)

1

hemifacial microsomia

2

mandibular prognathism

Eligibility Criteria

• Age: 2 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

-Subjects w/craniofacial anomalies or dentofacial deformities -Families of subjects with craniofacial anomalies or dentofacial deformities -Case Controls

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Dental and Craniofacial Research (NIDCR): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• 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.

  PMID: 9743642 BACKGROUND

• Cruz 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.

  PMID: 18074368 BACKGROUND

• Frazier-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.

  PMID: 19131318 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Prognathism; Retrognathia; Dentofacial Deformities; Fetal Growth Retardation

Condition Hierarchy (Ancestors)

Jaw Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Mandibular Diseases; Maxillofacial Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Fetal Diseases; Pregnancy Complications; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Growth Disorders; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Konstantinia Almpani, D.D.S.

  National Institute of Dental and Craniofacial Research (NIDCR)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Pamela M Orzechowski, R.N.

CONTACT

(301) 402-7373; ps363q@nih.gov

Konstantinia Almpani, D.D.S.

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 23, 2015
• First Posted: December 24, 2015
• Study Start: April 18, 2016
• Primary Completion (Estimated): December 31, 2046
• Study Completion (Estimated): December 31, 2046
• Last Updated: March 17, 2026

Record last verified: 2026-03-13

Locations

US (1)