TY - JOUR
T1 - A framework for the evaluation of patients with congenital facial weakness
AU - Webb, Bryn D.
AU - Manoli, Irini
AU - Engle, Elizabeth C.
AU - Jabs, Ethylin W.
N1 - Funding Information:
The authors acknowledge the Moebius Syndrome Research Consortium for their assistance, and the authors thank the Moebius Syndrome Foundation for their support. B.D.W. is a clinical geneticist, clinical molecular geneticist, and pediatrician specializing in genetic studies of rare, congenital anomalies. She is Co-Director of the Cleft and Craniofacial Program at the Icahn School of Medicine at Mount Sinai. I.M. is a clinical and biochemical geneticist and pediatrician with a focus on clinical and translational research in rare genetic syndromes and inborn errors of metabolism. She works at the National Human Genome Research Institute of the National Institutes of Health. E.C.E. is a child neurologist and neurogeneticist at Boston Children’s Hospital and Harvard Medical School, whose research focuses on the phenotypic, genetic, and molecular definition of disorders altering cranial nerve and muscle development. E.W.J. is a medical geneticist at the Icahn School of Medicine at Mount Sinai with a clinical focus in dysmorphology and a clinical, translational, and basic research interest in developmental genetics, in particular craniofacial disorders.
Funding Information:
The authors acknowledge the Moebius Syndrome Research Consortium for their assistance, and the authors thank the Moebius Syndrome Foundation for their support. B.D.W. is a clinical geneticist, clinical molecular geneticist, and pediatrician specializing in genetic studies of rare, congenital anomalies. She is Co-Director of the Cleft and Craniofacial Program at the Icahn School of Medicine at Mount Sinai. I.M. is a clinical and biochemical geneticist and pediatrician with a focus on clinical and translational research in rare genetic syndromes and inborn errors of metabolism. She works at the National Human Genome Research Institute of the National Institutes of Health. E.C.E. is a child neurologist and neurogeneticist at Boston Children’s Hospital and Harvard Medical School, whose research focuses on the phenotypic, genetic, and molecular definition of disorders altering cranial nerve and muscle development. E.W.J. is a medical geneticist at the Icahn School of Medicine at Mount Sinai with a clinical focus in dysmorphology and a clinical, translational, and basic research interest in developmental genetics, in particular craniofacial disorders.
Funding Information:
This work was supported by NIH grant U01HD079068.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
KW - Clinical characterization
KW - Clinical genetics
KW - Congenital facial weakness
KW - Facial paralysis
UR - http://www.scopus.com/inward/record.url?scp=85103996166&partnerID=8YFLogxK
U2 - 10.1186/s13023-021-01736-1
DO - 10.1186/s13023-021-01736-1
M3 - Review article
C2 - 33827624
AN - SCOPUS:85103996166
VL - 16
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 158
ER -