This study is currently recruiting participants.
Number
16-D-0040
Sponsoring Institute
National Institute of Dental And Craniofacial Research (NIDCR)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: 100 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Craniofacial; Microsomia; Mandibular; Facial Defects; Hasburg Jaw; Natural History
Recruitment Keyword(s)
Condition(s)
Prognathism; Retrognathism; Dentofacial Deformities
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Dental and Craniofacial Research
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
--Back to Top--
INCLUSION CRITERIA: For Subjects: -Age greater than or equal to 2 to less than or equal 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. - greater than or equal to 2 years old to less than or equal 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. -Greater than or equal to 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. EXCLUSION CRITERIA: 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 (both are not required to participate). For Healthy Volunteers: -Female volunteers who are pregnant or nursing.
For Subjects:
-Age greater than or equal to 2 to less than or equal 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.
- greater than or equal to 2 years old to less than or equal to 100 years old.
For Healthy Volunteers:
-In good general health.
-Greater than or equal to 6 years old to < 100 years old..
-Absence of a craniofacial congenital anomaly or malocclusion.
-No family history of a craniofacial syndrome.
EXCLUSION CRITERIA:
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 (both are not required to participate).
-Female volunteers who are pregnant or nursing.
Principal Investigator
Referral Contact
For more information: