Natural History of Craniofacial Anomalies and Developmental Growth Variants
National Institute of Dental and Craniofacial Research (NIDCR)
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
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…
Eligibility
- Age range
- 2–100 years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: 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…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland