title: Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification.
abstract: 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.
authors.forename: W A
authors.initials: WA
authors.lastname: McBride
authors.forename: G T
authors.initials: GT
authors.lastname: McIntyre
authors.forename: K
authors.initials: K
authors.lastname: Carroll
authors.forename: P A
authors.initials: PA
authors.lastname: Mossey
mesh_terms: D002971:Cleft Lip / Q000145:classification*; D002972:Cleft Palate / Q000145:classification*; D006801:Humans; D038801:International Classification of Diseases; D010641:Phenotype; D015995:Prevalence; D012042:Registries
keywords: ICD-10; ICD-11; LAHSAL; LAHSHAL; cleft; subphenotype