The FaceBase Biorepository is now collecting cases

The FaceBase Biorepository is now collecting biological samples from people with cleft lip/palate and their family members.

Information for Prospective Cases: Clefts of the lip and/or palate can be caused by a wide range of genetic, environmental and other factors. The FaceBase Biorepository will serve as a common source of both biological samples and information that can be made available to investigators trying to determine the underlying cause of these common birth defects. Genetic studies, in particular, will benefit from both family history information and having samples from affected individuals as well as their family members. DNA is the information containing molecules found in all the cells of our body and can be easily obtained from material such as blood or saliva samples. As part of the FaceBase Biorepository, we are requesting families to submit biological samples from specific family members as well as information from other family members that might be affected with either the same condition or a similar condition. The medical and family history information that is collected includes other relevant information such as exposure to possible environmental causes during pregnancy.

The biorepository is managed by Nichole Nidey, a research study coordinator, and Jeff Murray, a pediatric clinical geneticist and researcher. They are available to speak with family members regarding questions they may have, including providing information about the biorepository and making arrangements for the collection of samples for those who wish to participate. All participation is voluntary. Your name or other personally identifiable information (name, address, etc) will be removed before information is placed in the biorepository. Summary data to show how the database itself has been used overall as well as updates on whether specific findings might have been made using this database will be available on the FaceBase website at www.facebase.org. A newsletter containing this information will also be given to families and referring clinicians so that they may discuss the specifics with the families if there appears to be information that might be relevant in a particular case. Families will also need to sign a consent form that has been approved by the Institutional Review Board at the University of Iowa. Also, any submitted samples or data can also be removed from the database at any time should the family no longer wish to participate.


Investigators interested in requesting DNA samples or for more information, please contact cleftresearch@uiowa.edu, Nichole Nidey, nichole-nidey@uiowa.edu or (319) 353-4365, or Jeff Murray, jeff-murray@uiowa.edu.

The following syndromes (- number of cases) are currently represented in the biorepository:

  • 22q deletion syndrome - 1
  • Campomelic Dysplasia - 1
  • CHARGE Syndrome - 1
  • Chromosome Abnormality - 2
  • Congenital Heart Disease - 3
  • Congential Scoliosis - 1
  • Facial clefting-Tessier Type 4 - 1
  • Gordon Syndrome - 1
  • Hemifacial Microsomia - 1
  • Idiopathic Short Stature - 1
  • Kabuki make-up - 1
  • Microtia - 1
  • Multiple Congenital Anomalies - 6
  • Neurofibromatosis - 1
  • Pierre Robin - 18
  • Popliteal Pterygium Syndrome - 2
  • Robinow - 1
  • Schitzencephaly - 1
  • Syndactyly (fingers) - 1
  • Townes-Brock Syndrome - 1
  • Treacher Collins - 1
  • Trisomy 21 - 1
  • Unknown - 4
  • Van der Woude Syndrome - 14
  • Van der Woude/Popliteal Pterygium Syndrome - 10
  • Wildervanck Syndrome - 2

Enrollment Statistics (as of 12/01/12) :

  1/1/12 2/1/12 3/1/12 4/1/12 5/1/12 6/1/12 7/1/12 8/1/12 9/1/12 10/1/12 11/1/12 12/1/12
Number of Affected Individuals Enrolled 71 96 117 138 146 154 164 174 178 198 211 217
Total number Affected Individuals and family members  171 209 251 293 308 324 343 366 375 416 439 456
Number of Syndromic Individuals Enrolled  33 34 39 43 47 51 54 55 57 66 67 69
Number of Controls (no family hx of craniofacial conditions)  0 0 0 0 0 0 0 155 155 174 174 196
Total Number Enrolled in FaceBase Biorepository  171 209 251 293 308 324 343 521 531 590 614 653


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