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Related Experiment Video

Updated: Jun 5, 2026

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A phenotypic assessment tool for craniofacial microsomia.

Craig B Birgfeld1, Daniela V Luquetti, Alexander J Gougoutas

  • 1Seattle, Wash.; and Philadelphia, Pa. From the Division of Plastic Surgery, Department of Surgery, University of Washington, Seattle Children's Hospital, and Children's Hospital of Philadelphia.

Plastic and Reconstructive Surgery
|January 5, 2011
PubMed
Summary

A new phenotypic assessment tool standardizes craniofacial microsomia (CFM) classification. This tool, based on the Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus system, aids research into CFM causes and treatments.

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Area of Science:

  • Craniofacial Surgery
  • Medical Diagnostics
  • Genetics and Developmental Biology

Background:

  • Craniofacial microsomia (CFM) is a common congenital condition requiring specialized care.
  • Limited research exists on CFM causes and treatment outcomes due to diagnostic and phenotypic variability.
  • Standardized classification of craniofacial malformations is crucial for advancing CFM research.

Purpose of the Study:

  • To develop and validate a standardized phenotypic assessment tool for craniofacial microsomia.
  • To enhance the description and classification of CFM phenotypes.
  • To facilitate multicenter research on CFM etiology and treatment.

Main Methods:

  • Utilized the pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus (OMENS) classification scheme.
  • Modified the OMENS tool based on multidisciplinary focus group feedback.
  • Developed a standardized photographic protocol for 2D image-based assessment.

Main Results:

  • Created a refined phenotypic assessment tool for CFM, enhancing descriptive capabilities.
  • Confirmed the tool's effectiveness for clinical use within craniofacial teams.
  • Established a photographic protocol enabling classification from archived 2D images for research.

Conclusions:

  • The developed phenotypic assessment tool offers a simple, standardized method for CFM classification.
  • This tool is expected to support multicenter studies on CFM causes, natural history, and comparative effectiveness.
  • Standardized classification is key to advancing understanding and improving outcomes for patients with CFM.