A framework for the evaluation of patients with congenital facial weakness

Abstract

There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome

“…There were no pathogenic, likely pathogenic, or variants of uncertain significance identified in genes previously linked to Moebius syndrome by Tomas‐Roca et al (2015) ( PLXND1 and REV3L ). In addition, there were no variants of interest identified in genes associated with other CCDDs or other congenital facial weakness conditions, including the 25 genes on the differential diagnosis for congenital facial weakness syndromes described by Webb et al (2021).…”

“…(2015) (PLXND1 and REV3L). In addition, there were no variants of interest identified in genes associated with other CCDDs or other congenital facial weakness conditions, including the 25 genes on the differential diagnosis for congenital facial weakness syndromes described by Webb et al (2021).…”

“…development. Yet others have not found variants in these genes upon assessment of individuals from other Moebius syndrome cohorts, suggesting variants in these two genes may represent a rare etiology of Moebius syndrome (Picciolini et al, 2016;Webb et al, 2021).…”

“…This work by Tomas‐Roca et al (2015) included analysis of Plxnd1 and Rev3l mutant mice models, supporting the involvement of these two genes in cranial nerve, craniofacial, and vertebral development. Yet others have not found variants in these genes upon assessment of individuals from other Moebius syndrome cohorts, suggesting variants in these two genes may represent a rare etiology of Moebius syndrome (Picciolini et al, 2016; Webb et al, 2021).…”

Assessment of the Effectiveness of Facial Expression Exercises Stimulation Using Mirror Media in Increasing Facial Muscle Strength in Hemiparetic Stroke Patients

“…Potential problems due to facial muscle weakness are facial drooping; absence of forehead, nasolabial, or periorbital folds; lagophthalmos (incomplete eyelid closure); open mouth posture; drooling; and inability to make facial expressions, frown, whistle, and/or difficulty with the articulation of labial consonants [7]. The weakness of post-stroke patients is not only in the limbs but also in facial muscle.…”