PURPOSE OF REVIEW: We review the congenital and genetic diagnoses that are currently included in the congenital cranial dysinnervation disorders (CCDDs). RECENT FINDINGS: Recent literature contains new genotypic and phenotypic descriptions of Duane retraction syndrome, Moebius syndrome, and other CCDDs. New genes which when mutated can result in CCDD have been identified, permitting a better understanding of associated phenotypes. More information is available regarding neurodevelopmental and clinical effects of various gene mutations associated with individual CCDDs. For certain CCDDs, the phenotype of a particular individual may not completely predict the genotype, and conversely, the genotype may not always predict the phenotype. SUMMARY: The CCDD concept has focused attention on specific congenital disturbances of human ocular motility and on the fact that these disorders are typically neurogenic in origin. The past decade has seen rapid evolution within this field with the last 2 years yielding additional information about existing diagnoses, genes, and phenotypes that may result in better classification of these disorders and new genotype-phenotype correlations in the future.
PURPOSE OF REVIEW: We review the congenital and genetic diagnoses that are currently included in the congenital cranial dysinnervation disorders (CCDDs). RECENT FINDINGS: Recent literature contains new genotypic and phenotypic descriptions of Duane retraction syndrome, Moebius syndrome, and other CCDDs. New genes which when mutated can result in CCDD have been identified, permitting a better understanding of associated phenotypes. More information is available regarding neurodevelopmental and clinical effects of various gene mutations associated with individual CCDDs. For certain CCDDs, the phenotype of a particular individual may not completely predict the genotype, and conversely, the genotype may not always predict the phenotype. SUMMARY: The CCDD concept has focused attention on specific congenital disturbances of humanocular motility and on the fact that these disorders are typically neurogenic in origin. The past decade has seen rapid evolution within this field with the last 2 years yielding additional information about existing diagnoses, genes, and phenotypes that may result in better classification of these disorders and new genotype-phenotype correlations in the future.
Authors: Anthony-Samuel LaMantia; Sally A Moody; Thomas M Maynard; Beverly A Karpinski; Irene E Zohn; David Mendelowitz; Norman H Lee; Anastas Popratiloff Journal: Dev Biol Date: 2015-11-07 Impact factor: 3.582
Authors: Ronak M Patel; David Liu; Claudia Gonzaga-Jauregui; Shalini Jhangiani; James T Lu; V Reid Sutton; Susan D Fernbach; Mahshid Azamian; Lisa White; Jane C Edmond; Evelyn A Paysse; John W Belmont; Donna Muzny; James R Lupski; Richard A Gibbs; Richard Alan Lewis; Brendan H Lee; Seema R Lalani; Philippe M Campeau Journal: Cold Spring Harb Mol Case Stud Date: 2017-03
Authors: Tanya Lehky; Reversa Joseph; Camilo Toro; Tianxia Wu; Carol Van Ryzin; Andrea Gropman; Flavia M Facio; Bryn D Webb; Ethylin W Jabs; Brenda S Barry; Elizabeth C Engle; Francis S Collins; Irini Manoli Journal: Muscle Nerve Date: 2021-01-19 Impact factor: 3.217