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Hemifacial Microsomia Review: Recent Advancements in Understanding the Disease
Marek A Paul1, Jakub Opyrchał1, Michał Knakiewicz1
1T. Marciniak Lower Silesian Specialist Hospital.
Abstract:
Hemifacial microsomia (HFM) is the second most common congenital disability of the face, with a prevalence of 1 in 3000 to 5600 live births. Although etiology is still not fully understood, including both genetics and environmental factors, the latest reports indicate the prominence of premature loss of the neural crest cells. What is more, a deficit of muscles of mastication, except the masseter, correlates in the pathomechanism of mandibular underdevelopment. Due to the significant phenotypic diversification, the typical picture of HFM cannot be determined. It may present as an esthetic concern-minor asymmetry with deformed auricle, and on the contrary, as microtia/anotia with conductive type hearing loss, hypoplastic mandible, and microphthalmia, impairing patient's daily activities. Referring to psychosocial problems, it has been proved that in population with HFM, there is a modestly elevated risk for behavior problems, social competence, and less acceptance. Over the years, more comprehensive methods of assessing the extent and severity of the HFM as the OMENS (+) classification have emerged. The authors like to summarize and present for plastic surgery resident and plastic surgeons the critical features of HFM, including the epidemiology, clinical presentation, pathogenesis, and innovative management reported in the current literature.
Insights
Hemifacial microsomia (HFM) is a common congenital facial disability. This review covers HFM epidemiology, pathogenesis, clinical presentation, and management for plastic surgeons.
Area of Science:
- Craniofacial surgery
- Developmental biology
- Genetics
Background:
- Hemifacial microsomia (HFM) is the second most common congenital facial disability, affecting 1 in 3000–5600 live births.
- Etiology involves genetics and environmental factors, with recent focus on neural crest cell loss and masticatory muscle deficits contributing to mandibular hypoplasia.
- HFM presents diverse phenotypes, from mild asymmetry to severe microtia, conductive hearing loss, mandibular hypoplasia, and microphthalmia, impacting daily activities and psychosocial well-being.
Purpose of the Study:
- To summarize critical features of Hemifacial Microsomia (HFM) for plastic surgery residents and surgeons.
- To provide an overview of HFM epidemiology, clinical presentation, pathogenesis, and current management strategies.
- To highlight the phenotypic diversity and psychosocial implications of HFM.
Main Methods:
- Literature review of current research on Hemifacial Microsomia (HFM).
- Analysis of epidemiological data, etiological factors, and pathomechanisms.
- Review of diagnostic classifications like OMENS (+) and current treatment modalities.
Main Results:
- HFM exhibits significant phenotypic variability, ranging from minor asymmetry to severe craniofacial hypoplasia.
- Pathogenesis is linked to neural crest cell deficits and masticatory muscle underdevelopment.
- Associated conditions include hearing loss, mandibular hypoplasia, and microphthalmia, with increased risk of psychosocial issues.
Conclusions:
- Comprehensive understanding of HFM's multifaceted nature is crucial for effective management.
- The OMENS (+) classification aids in assessing HFM severity.
- Innovative management strategies are continually evolving to address the complex challenges of HFM.
