The etiology, clinical features, and treatment options of hemifacial microsomia

Abstract

The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mandible, ear dysplasia, facial nerve, and soft tissue dysplasia. The etiology of HFM is not fully understood. To organize the possible up‐to‐date information on the etiology, craniofacial phenotypes, and therapeutic alternatives in order to fully comprehend the HFM. Reviewing the potential causes, exploring the clinical features of HFM and summarizing the available treatment options. Vascular malformation, Meckel's cartilage abnormalities, and cranial neural crest cells (CNCCs) abnormalities are three potential etiology hypotheses. The commonly used clinical classification for HFM is OMENS, OMENS‐plus, and SAT. Other craniofacial anomalies, like dental defects, and zygomatic deformities, are still not precisely documented in the classification. Patients with moderate phenotypes may not need any treatment from infancy through adulthood. However, patients with severe HFM require to undergo multiple surgeries to address facial asymmetries, such as mandibular distraction osteogenesis (MDO), autologous costochondral rib graft (CCG), orthodontic and orthognathic treatment, and facial soft tissue reconstruction. It is anticipated that etiology research will examine the pathogenic mechanism of HFM. A precise treatment for HFM may be possible with thoroughly documented phenotypes and a pathogenic diagnosis.

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

“…Craniofacial skeletal disorders are generally associated with dysregulation of cell differentiation, bone patterning and development as well as alterations in bone density and ossification patterns ( Foster et al, 2014 ). While some disorders present in the craniofacial bones symmetrical, others present asymmetrically ( Luo et al, 2023 ). The head region is anatomically complex.…”

vwa1 Knockout in Zebrafish Causes Abnormal Craniofacial Chondrogenesis by Regulating FGF Pathway

“…During embryogenesis of the outer ear, cranial neural crest cells (CNCCs) migrate to the mesenchyme of the first and second pharyngeal arches, forming the connective tissue, pericytes, and smooth muscle cells of blood vessels [ 6 ]. A series of studies have identified dysregulated CNCC and cartilage development as the potential causes of HFM and related syndromes [ 7 , 8 , 9 ]. The fibroblast growth factor (FGF) signaling pathway has been demonstrated to play vital roles in chondrogenesis during the early stages of development, exhibiting intimate crosstalk with tumor growth factor-β (TGFβ) and Wnt (wingless-related integration site) signaling pathways [ 10 ].…”

Crosstalk between stomatology and medical genetics: Viewpoints of Chinese scholars

“…This special issue comprises nine invited reviews from OGDRD committee members, focusing on congenital dental abnormalities such as hereditary enamel and dentin defects (Dong et al, 2023; Su et al, 2023; Yuan et al, 2023; Zhang et al, 2023), tooth agenesis (Lan et al, 2022), multiple idiopathic cervical root resorption (Wang et al, 2022), craniofacial and oral malformations including non‐syndromic skeletal Class III malocclusion (Zhou et al, 2022), mandibular coronoid process hyperplasia (Wang, 2022), and hemifacial microsomia (Luo et al, 2023).…”

“…Wang et al (2022) conducted a systematic review focusing on multiple idiopathic cervical root resorption, providing the diagnostic strategies and treatment options for this condition (Wang et al, 2022). In the case of hemifacial microsomia, Luo et al (2023) introduced the OMENS‐Plus classification system to enhance the accuracy of diagnosis and optimize treatment approaches (Luo et al, 2023). Reports demonstrate that molecular‐based enamel or dentin phenotypes may provide valuable insights for the precise diagnosis (Dong et al, 2023; Su et al, 2023; Zhang et al, 2023) and clinical management at different stages of dentin dysplasia to avoid the development of secondary dental lesions (Yuan et al, 2023).…”

“…Craniofacial and oral genetic disorders have multiple hereditary patterns or genetic regulating mechanisms. Both polygenic inheritance and monogenic inheritance contribute to non‐syndromic skeletal Class III malocclusion and hemifacial microsomia (Luo et al, 2023; Zhou et al, 2022). Meanwhile, epigenetics also play a critical role in craniofacial and dental genetic diseases such as non‐syndromic skeletal Class III malocclusion and developmental defects of the enamel (Zhang et al, 2023; Zhou et al, 2022).…”