Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

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.