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Congenital extraocular muscle anomaly

MedGen UID:
870378
•Concept ID:
C4024823
•
Congenital Abnormality
HPO: HP:0007647

Definition

Congenital abnormality of the extraocular muscles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital extraocular muscle anomaly

Conditions with this feature

Syndromic orbital border hypoplasia
MedGen UID:
318965
•Concept ID:
C1833795
•
Disease or Syndrome
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.
See: Condition Record
Syndromic orbital border hypoplasia

Professional guidelines

PubMed

Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.
Chen M, Huang R, Zhang Y, Zhu DJ, Shu Q, Xun P, Zhang J, Gu P, Li L
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):879-889. Epub 2022 Sep 23 doi: 10.1007/s00417-022-05830-3. PMID: 36138147Free PMC Article
The diagnosis and treatment of infantile nystagmus syndrome (INS).
Khanna S, Dell'Osso LF
ScientificWorldJournal 2006 Oct 30;6:1385-97. doi: 10.1100/tsw.2006.248. PMID: 17086344Free PMC Article
Extraocular mitochondrial myopathies and their differential diagnoses.
Schoser BG, Pongratz D
Strabismus 2006 Jun;14(2):107-13. doi: 10.1080/09273970600701218. PMID: 16760117

Recent clinical studies

Etiology

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article

Diagnosis

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article

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