Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

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.