Subphenotyping and classification of orofacial clefts: need for orofacial cleft subphenotyping calls for revised classification

W. A. McBride, G. T. McIntyre, K. Carroll, P. A. Mossey (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


Nonsyndromic orofacial clefting (OFC) describes a range of phenotypes that represent the most common craniofacial birth defects in humans, with an overall birth prevalence of 1:700 live births. Because of the lifelong negative implications on health and well-being associated with OFC and the numbers of people affected, quality research into its etiology, diagnosis, treatment outcomes, and preventative strategies is essential. A range of different methods is used for recording and classifying OFC subphenotypes, one of which is the International Classification of Diseases (ICD) system. However, there is a general perception that research is being hampered by a lack of sensitivity and specificity in grouping those with OFC into subphenotypes, with potential heterogeneity and confounding in epidemiologic, genetic, and genotype-phenotype correlation studies. This article provides a background to the necessity of OFC research, discusses current controversies within cleft subphenotyping, and provides a brief overview of current OFC classifications as well as their limitations. The LAHSHAL classification is described in the context of a potentially useful tool for OFC that could complement the ICD-10/ICD-11 Beta coding systems to become a simply understood, universally accepted, clinically friendly, and research-sensitive instrument. Empowering registries, clinicians, and researchers to use a common classification system would have significant implications for OFC research across the world at a time when accurate subphenotyping is crucial and health care research is becoming increasingly tailored toward the individual. - See more at:
Original languageEnglish
Pages (from-to)539-549
Number of pages11
JournalCleft Palate-Craniofacial Journal
Issue number5
Early online date14 Jul 2015
Publication statusPublished - Sept 2016


  • cleft
  • ICD-10
  • ICD-11
  • subphenotype

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology


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