Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised...

Area of Science:

• Craniofacial biology
• Medical genetics
• Public health

Background:

• Nonsyndromic orofacial clefting (OFC) is a common birth defect with significant lifelong health implications.
• Current classification systems, like ICD, may lack the sensitivity and specificity needed for robust OFC research.
• Heterogeneity in OFC subphenotypes complicates epidemiological, genetic, and genotype-phenotype correlation studies.

Purpose of the Study:

• To highlight the necessity of OFC research and discuss current challenges in subphenotyping.
• To review existing OFC classification systems and their limitations.
• To introduce the LAHSHAL classification as a potentially superior tool for OFC research.

Main Methods:

• Review of existing literature on OFC classification systems.
• Discussion of the limitations of current methods, including the ICD system.
• Introduction and description of the LAHSHAL classification system.

Main Results:

• Existing OFC classification systems face challenges with sensitivity and specificity.
• The LAHSHAL classification is presented as a potentially more effective tool for OFC subphenotyping.
• LAHSHAL aims to be a simple, universally accepted, clinically friendly, and research-sensitive instrument.

Conclusions:

• Accurate subphenotyping is crucial for advancing OFC research and personalized healthcare.
• The LAHSHAL classification has the potential to significantly improve OFC research globally.
• Adoption of a common, sensitive classification system will empower researchers and clinicians, leading to better outcomes for individuals with OFC.