Last updated on May 2020

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Birth Defects | CONGENITAL ANOMALY NOS | Microtia-Anotia | Female Hormonal Deficiencies/Abnormalities | Microtia | Growth Hormone Deficiencies/Abnormalities | Facial asymmetry | OAV Syndrome | Goldenhar Syndrome | Craniofacial Microsomia | Male Hormonal Deficiencies/Abnormalities
  • Age: - 18 Years
  • Gender: Male or Female

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.

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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