Genetic Analysis of Syndromic Orofacial Clefting

The goal of this study is to identify previously unknown genetic causes of human syndromic cleft lip/palate by using genome sequencing. Many previous studies have shown that isolated cleft lip and/or palate are not often likely to be monogenic or Mendelian diseases. We hope that by focusing on syndromic presentations, we will find novel causes of disorders which include orofacial clefting among their phenotype(s). Data provided will be fastq files from sequencing partners.]]>
Inclusion Criteria Having syndromic cleft lip/palateBeing a family member of an affected individual for whom no clinical diagnosis was previously made. Exclusion Criteria A known (in utero) history of exposure which suggests the clefting might not be genetic. ]]>
Patients were recruited by referral to the PI located at Cincinnati Children's Hospital between 2011-2021. Sequencing was supported by R01 DE027091.]]>