The Pittsburgh Oral-Facial Cleft study: Expanding the cleft phenotype. Background and justification

Seth M. Weinberg, Katherine Neiswanger, Rick A. Martin, Mark P. Mooney, Alex A. Kane, Sharon L. Wenger, Joseph Losee, Frederick Deleyiannis, Lian Ma, Javier E. De Salamanca, Andrew E. Czeizel, Mary L. Marazita

Research output: Contribution to journalReview articlepeer-review

84 Scopus citations


The Pittsburgh Oral-Facial Cleft study was begun in 1993 with the primary goal of identifying genes involved in nonsyndromic orofacial clefts in a variety of populations worldwide. Based on the results from a number of pilot studies and preliminary genetic analyses, a new research focus was added to the Pittsburgh Oral-Facial Cleft study in 1999: to elucidate the role that associated phenotypic features play in the familial transmission patterns of orofacial clefts in order to expand the definition of the nonsyndromic cleft phenotype. The purpose of this paper is to provide a comprehensive review of phenotypic features associated with nonsyndromic orofacial clefts. These features include fluctuating and directional asymmetry, non-right-handedness, dermatoglyphic patterns, craniofacial morphology, orbicularis oris muscle defects, dental anomalies, structural brain and vertebral anomalies, minor physical anomalies, and velopharyngeal incompetence.

Original languageEnglish (US)
Pages (from-to)7-20
Number of pages14
JournalCleft Palate-Craniofacial Journal
Issue number1
StatePublished - Jan 2006


  • Associated anomalies
  • Cleft lip
  • Cleft lip and palate
  • Phenotype
  • Unaffected relatives

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology


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