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.

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.

All CFM cases, their parents, and their relatives regardless of their sex, race, or ethnicity. The prospective case samples will likely be drawn from outpatient clinics and medical centers, as well as CFM-related social medial networks.

Investigators do not plan to share, as CFM is a rare disease and could be potentially identifiable.