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A Framework for the Evaluation of Patients with Congenital Facial Weakness Bryn D Webb et al. Orphanet J Rare Dis (2021) 16:158 https://doi.org/10.1186/s13023-021-01736-1 REVIEW Open Access A framework for the evaluation of patients with congenital facial weakness Bryn D. Webb1,2* , Irini Manoli3, Elizabeth C. Engle4,5,6 and Ethylin W. Jabs1,2 Abstract There is a broad diferential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortu- nately 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 special- ists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care. Keywords: Congenital facial weakness, Facial paralysis, Clinical genetics, Clinical characterization Clinical characteristics: congenital facial weakness CFW may be unilateral or bilateral and may be partial Congenital facial weakness (CFW) refers to decreased or complete (Fig. 2). Complete CFW refers to complete facial movement present at birth secondary to impaired absence of facial movement in all four quadrants of the function of facial musculature. CFW may be second- face (right upper quadrant, right lower quadrant, left ary to a defect in the motor nucleus of the facial nerve upper quadrant, and left lower quadrant). Patients with or the facial nerve itself (cranial nerve 7; CN7) (neuro- complete absence of facial movement on the left side genic), a defect at the neuromuscular junction, an inher- of the face may be described as having unilateral (left) ent muscular problem (myopathic), or other unknown or complete CFW. Similarly, patients with reduced facial mixed causes (Fig. 1). Congenital facial paralysis (CFP) movement on the left side of the face may be described is decreased (palsy/paresis) or absent (paralysis) facial as having unilateral (left) partial CFW. Clinical charac- movement present at birth that results specifcally from teristics of CFW may include: facial droop; absence of loss of facial nerve function. CFP may be caused by an forehead, nasolabial, or periorbital folds; lagophthal- abnormal developmental process or other causes, includ- mos (incomplete eyelid closure); open mouth posture or ing the most common cause of trauma, as in the case of u-shaped upper lip; drooling; and inability to make facial temporary or permanent CFP resulting from the use of expressions, wrinkle the forehead, whistle, and/or dif- forceps during delivery. Te diferential provided in this culties with articulation of labial consonants. review is useful after exclusion of post-traumatic CFP. An In some cases of CFW, recruitment of other muscu- appropriate history and temporary CFP are important lature can result in asymmetric synkinesis of facial and considerations for diagnosis of traumatic CFP. neck musculature. Most commonly, synkinesis afects the eye and facial muscles. During voluntary movement *Correspondence: [email protected] of the mouth, there may be involuntary eye closure, and 1 Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Full list of author information is available at the end of the article © The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http:// creat iveco mmons. org/ licen ses/ by/4. 0/. The Creative Commons Public Domain Dedication waiver (http:// creat iveco mmons. org/ publi cdoma in/ zero/1. 0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Webb et al. Orphanet J Rare Dis (2021) 16:158 Page 2 of 17 ABDS/BSAS CFEOM3A CHARGE syndrome Neurogenic (CFP) Hereditary Congenital Facial Paresis (HCFP) Moebius syndrome Oculo-auriculo-vertebral spectrum Congenital myasthenic syndrome 9 Neuromuscular Congenital myasthenic syndrome 10 Junction Congenital myasthenic syndrome 11 Carey-Fineman-Zitersyndrome Central core disease/Multiminicoredisease Congenital Facial Weakness (CFW) Centronuclear/ Myotubular myopathy Congenital myopathy-Zaharieva et al [2016] Myopathic Facioscapulohumeralmuscular dystrophy (FSHD) Myotonic Dystrophy, Type 1 Native American myopathy Nemaline myopathy ZC4H2-associated rare disorders Asymmetric Crying Facies KAT6B disorders Other Marden-Walker syndrome Nablus mask-like facial syndrome Fig. 1 Diferential Diagnosis for CFW Disorders. CFW disorders may be due to neurogenic, neuromuscular junction, myopathic, or other causes during voluntary movement of the eye, there may be weakness may also be acquired, resulting from a diferent involuntary mouth or neck muscle movements [1]. set of etiologies including infection (Bell’s palsy), neopla- In diagnosing CFW, it is important to establish that sia, or neurodegeneration. the facial weakness indeed was present at birth, as facial Webb et al. Orphanet J Rare Dis (2021) 16:158 Page 3 of 17 frst identifed in Native American families [2, 4]. BSAS and ABDS are characterized by horizontal gaze palsy in which there is absent to markedly restricted ocular abduction and adduction. In some cases the horizontal gaze palsy is accompanied by retraction of the globe and narrowing of the palpebral fssure on attempted adduc- tion, consistent with the diagnosis of Duane syndrome type 3. Most individuals with BSAS and ABDS also have bilateral sensorineural hearing loss caused by an absent cochlea and rudimentary inner-ear development and absent or hypoplastic carotid arteries with a corre- sponding absence of the carotid canal through which the artery normally passes. Approximately 20% of patients with BSAS or ABDS have congenital facial palsy [5]. Some afected individuals also have intellectual disabil- ity, autism spectrum disorder, moderate-to-severe cen- tral hypoventilation, swallowing difculties, vocal cord paresis, conotruncal heart defects, macrocephaly, and Fig. 2 CFW seen in an adult female. This adult female with Moebius syndrome has CFW, often described as causing a “mask-like” facial malformations of inner ear bones and/or petrous bones. appearance. She has bilateral CFP and is more afected on her right Individuals with simplex isolated Duane syndrome have side not been found to harbor pathogenic variants in HOXA1 [2]. Congenital fbrosis of the extraocular muscles 3A Diferential diagnosis of congenital facial with or without extraocular involvement (CFEOM3A) weakness (ORPHA:45358) Tere is a broad diferential for disorders with a promi- Congenital fbrosis of the extraocular muscles 3 nent characteristic of CFW. Tis diferential includes (CFEOM3A) is a complex eye movement disorder with neurogenic, neuromuscular junction, myopathic, and ptosis and restricted vertical and horizontal gaze with or other unknown or mixed causes (Fig. 1). without congenital facial palsy and non-ocular manifes- tations caused by a heterozygous, pathogenic missense Neurogenic causes of congenital facial weakness variants in TUBB3, which encodes a beta-tubulin protein Tere are a wide variety of neurogenic causes of con- [6]. At least three specifc TUBB3 mutations are associ- genital facial weakness including Athabasacan brain stem ated with CFEOM and CFP (c.1228G > A;p.Glu410Lys; dysgenesis/Bosley-Salih-Alorainy syndrome, congenital c.785G > A;p.Arg262His; and c.1249G > C;p.Asp417His). fbrosis of the extraocular muscles (CFEOM) type 3A, Of these, the c.1228G > A;p.Glu410Lys variant is best CHARGE syndrome, hereditary congenital facial paresis, defned, and the disorder caused by this specifc muta- Moebius syndrome, and oculo-auriculo-vertebral spec- tion is known as the TUBB3 E410K syndrome. Features trum (Fig. 1 and Table 1). of the TUBB3 E410K syndrome (CFEOM3A, MIM #600638) include CFEOM, bilateral CFP, developmental Athabascan brain stem dysgenesis syndrome (ABDS) delay, progressive sensorimotor polyneuropathy, Kall- (ORPHA:69739)/ Bosley‑Salih‑Alorainy syndrome (BSAS) mann syndrome, stereotyped midface hypoplasia, and (ORPHA:69737) in some cases, vocal cord paralysis, tracheomalacia, and Athabascan brain stem dysgenesis syndrome (ABDS) and cyclic vomiting [7]. Patients with TUBB3 p.Arg262His Bosley-Salih-Alorainy (BSAS) syndrome are allelic HOX and p.Asp417His mutations present with CFEOM, CFP, gene disorders caused by recessive, pathogenic loss-of- developmental delay, progressive sensorimotor polyneu- function variants in the gene HOXA1. Te HOX genes ropathy, and congenital joint contractures [6]. are homeodomain
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