A phenotypic assessment tool for craniofacial microsomia.

Background: Craniofacial microsomia is one of the most common conditions treated by craniofacial teams. However, research regarding the cause of this condition or the surgical outcomes of treatment is scant. This is attributable to the lack of diagnostic criteria and the wide phenotypic spectrum. Standardized description of the craniofacial malformations associated with craniofacial microsomia is a necessary first step for multicenter, interdisciplinary research into this complex condition.

Methods: The authors used the previously published pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification scheme to assign a phenotypic severity score to patients with craniofacial microsomia treated at the Craniofacial Center at Seattle Children's Hospital. The authors modified the tool based on feedback from multidisciplinary focus groups. The authors also developed a standardized photographic protocol to facilitate assessment of patients using two-dimensional images.

Results: Feedback from focus groups was synthesized to create a phenotypic assessment tool for craniofacial microsomia based on the pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification system. This tool allows for more comprehensive description of the phenotype of craniofacial microsomia and is found to be effective for clinical use within a multidisciplinary craniofacial team. In addition, the photographic protocol for patients with craniofacial microsomia allows for classification from a two-dimensional photographic database, thereby facilitating research using archived photographs.

Conclusions: The phenotypic assessment tool for craniofacial microsomia protocol provides a simple and standardized method for practitioners and researchers to classify patients with craniofacial microsomia. We anticipate that this tool can be used in multicenter investigational studies to evaluate the cause of this condition, its natural history, and comparative effectiveness research.