Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Study Overview
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Brief Summary
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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.

Official Title
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Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Conditions
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OAVS, Microtia, Microtia-Anotia, Craniofacial Microsomia, Goldenhar Syndrome, OAV Syndrome, Hemifacial Microsomia

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identify Genetic Variants | To identify genetic variants related to the CFM spectrum using whole genome sequencing | Through study completion, an average of 1 year. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Characterize phenotype | To characterize the detailed phenotype in individuals with CFM | Through study completion, an average of 1 year. | 
| Characterize markers | To characterize ancestry markers in individuals with CFM | Through study completion, an average of 1 year. | 
| Coding and non-coding variants | To assess coding and non-coding variants in selected candidate genes in individuals with CFM | Through study completion, an average of 1 year. |