Developmental Anomalies – Clefts

  • Elizabeth J. Leslie
  • Mary L. MarazitaEmail author


Developmental congenital anomalies present both opportunities and challenges for personalized medicine. Since such anomalies develop before birth, prevention (one of the major goals of personalized medicine) is less pertinent. Instead, other opportunities are likely to be more attainable, for example, the use of personalized medicine approaches to improve treatment, prognosis, long-term outcomes, and prevention of associated health complications. Here we will focus on orofacial clefts (OFCs) as a model for other congenital anomalies with respect to personalized medicine. OFCs, primarily cleft lip (CL) and cleft palate (CP) are among the most common birth defects in all populations worldwide, with notable population, ethnicity, and gender differences in birth prevalence. In this chapter we trace major advances in phenotypic and genetic research of OFC which have laid the groundwork for applying the promise of personalized medicine for OFCs and other developmental anomalies. Notably, OFC represents a major success in applying genome-wide approaches to the etiology of a complex trait, and is poised for further breakthroughs in the near future.


Congenital anomalies Cleft lip Cleft palate Genetics Nonsyndromic Phenomics Phenotypes Syndromes 

List of Abbreviations

CL =

Cleft lip


Cleft lip plus cleft palate

CL/P =

Cleft lip with or without cleft palate

CP =

Cleft palate


Genome-wide association study


Orofacial cleft


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© Springer International Publishing Switzerland 2015

Authors and Affiliations

  1. 1.Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental MedicineUniversity of PittsburghPittsburghUSA
  2. 2.Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, Department of Human Genetics, Graduate School of Public Health, Clinical and Translational Science Institute, and Department of Psychiatry, School of MedicineUniversity of PittsburghPittsburghUSA

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