A framework for the evaluation of patients with congenital facial weakness

Bryn D Webb, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, Bryn D Webb, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs

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.

Keywords: Clinical characterization; Clinical genetics; Congenital facial weakness; Facial paralysis.

Conflict of interest statement

None.

Figures

Fig. 1
Fig. 1
Differential Diagnosis for CFW Disorders. CFW disorders may be due to neurogenic, neuromuscular junction, myopathic, or other causes
Fig. 2
Fig. 2
CFW seen in an adult female. This adult female with Moebius syndrome has CFW, often described as causing a “mask-like” facial appearance. She has bilateral CFP and is more affected on her right side

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