Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

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.