Orofacial Cleft Study

STUDY BASICS

Does your child age 5-17 have a history of cleft lip and/or palate? Researchers are looking for children with cleft lip and/or cleft palate and their families to take part in a research study to identify the inherited factors (genes) that may play a role in the development of cleft lip and cleft palate. Compensation provided.

STUDY PURPOSE

Cleft lip and cleft palate (called orofacial clefts) are common birth defects that occur when a baby’s lip or mouth do not form properly during pregnancy. People with these conditions often undergo multiple surgeries and other medical procedures. Although the exact cause of orofacial clefts is unknown, affected individuals are more likely to have a relative with a cleft than would be expected by chance. This suggests that genes may play a role in why certain individuals are born with orofacial clefts. The purpose of the Pittsburgh Orofacial Cleft Families Study is to learn more about the inherited factors (genetics) of cleft lip and/or cleft palate. Researchers will compare people with and without orofacial clefts.

COULD THIS STUDY BE RIGHT FOR YOUR CHILD?

• Age 5-17
• Caucasian, Asian, or Hispanic
• History of cleft lip and/or cleft palate
• No personal or family history of genetic syndromes or multiple severe birth defects
• Affected family member must be available to participate

WHAT PARTICIPANTS CAN EXPECT

Study participation requires 1 visit lasting 3-4 hours, and includes the following:

• DNA sample (saliva specimen)
• Questionnaires
• Speech assessment
• Photographs, videos, and assessments of your face and mouth
• Ultrasound of your upper lip
• Dental impressions
• Scan of your hands
• Smell test