Craniofacial Microsomia, Goldenhar Syndrome, Hemifacial Microsomia, Microtia, Microtia-Anotia, OAVS, OAV Syndrome
Conditions
Brief summary
The CAUSE study is a multicenter study, with domestic (n=4) and international (n=6) study sites. Children and young adults (ages 0-18) who have microtia and/or craniofacial microsomia and their parents are invited to participate. Children and parents are asked to provide a DNA sample (blood or saliva) and are asked to upload a few photos of their face. Parents are asked a short interview. Participants are able to participate from home or at one of four domestic sites.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
INCLUSION: Cases: * Participant with CFM is 0-18 years of age * Participant has diagnosis of at least one of the following conditions: * Microtia * Anotia * Facial asymmetry AND preauricular tag(s) * Facial asymmetry AND facial tag(s) * Facial asymmetry AND epibulbar dermoid * Facial asymmetry AND macrostomia (i.e., lateral cleft) * Preauricular tag AND epibulbar dermoid * Preauricular tag AND macrostomia * Facial Tag AND epibulbar dermoid * Macrostomia AND epibulbar dermoid * Participant's parent or legal guardian has provided written informed consent prior to enrollment into study (for participants younger than 18 years of age). * Participant speaks a language in which they are eligible for consent at their enrolling site Parents: * Parent participant is the biological parent of a case participant already eligible and participating in the CAUSE study. Non-genetic parents will be interviewed about their child's known prenatal and genetic family history but will not be asked to provide DNA or have facial photographs taken. * Participant speaks a language in which they are eligible for consent at their enrolling site Other relatives: * Other relatives participants, of any age, are related biologically to a case participant already eligible and participating in the CAUSE study from a multiplex family (multiple affected individuals with CFM). * Participant speaks a language in which they are eligible for consent at their enrolling site EXCLUSION: Cases: * Participant is diagnosed with a known syndrome that involves microtia and underdevelopment of the jaw (Townes-Brocks, Treacher-Collins, Branchiootorenal, Nager, or Miller syndromes). * Participant has abnormal chromosome studies (karyotype). * Participant has mandibular asymmetry due to deformational plagiocephaly or torticollis.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identify Genetic Variants | Through study completion, an average of 1 year. | To identify genetic variants related to the CFM spectrum using whole genome sequencing |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Coding and non-coding variants | Through study completion, an average of 1 year. | To assess coding and non-coding variants in selected candidate genes in individuals with CFM |
| Characterize phenotype | Through study completion, an average of 1 year. | To characterize the detailed phenotype in individuals with CFM |
| Characterize markers | Through study completion, an average of 1 year. | To characterize ancestry markers in individuals with CFM |
Countries
Colombia, Peru, Spain, United States