title: The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.
abstract: In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).
authors.affiliation: Boston Children's Hospital, Boston , Massachusetts , USA and.
authors.forename: Carolyn P
authors.initials: CP
authors.lastname: Graeber
authors.forename: David G
authors.initials: DG
authors.lastname: Hunter
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Engle
mesh_terms: D004370:Duane Retraction Syndrome / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000235:genetics; D005355:Fibrosis; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D020331:Mobius Syndrome / Q000235:genetics*; D009886:Ophthalmoplegia; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*; D013285:Strabismus / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D000099261:Homeobox A1 Protein; D000093922:Congenital Cranial Dysinnervation Disorders
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099261:Homeobox A1 Protein; C101121:HOXB1 homeodomain protein