Natural History of Craniofacial Anomalies and Developmental Growth Variants

Description

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

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Study Overview

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Study Details

Study overview

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

Natural History of Craniofacial Anomalies and Developmental Growth Variants

Natural History of Craniofacial Anomalies and Developmental Growth Variants

Condition
Prognathism
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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.
  • * In good general health.
  • * 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.
  • * 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 (both are not required to participate).

Ages Eligible for Study

2 Years to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Institute of Dental and Craniofacial Research (NIDCR),

Konstantinia Almpani, D.D.S., PRINCIPAL_INVESTIGATOR, National Institute of Dental and Craniofacial Research (NIDCR)

Study Record Dates

2046-12-31