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Congenital trigeminal anesthesia

MedGen UID:
342259
Concept ID:
C1852541
Disease or Syndrome
Synonyms: Corneal hypesthesia, familial; Trigeminal anesthesia, familial
SNOMED CT: Congenital trigeminal anesthesia (763218005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007384
OMIM®: 122450
Orphanet: ORPHA231013

Definition

A rare neuro-ophthalmological disorder characterised by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anaesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital trigeminal anesthesia
Follow this link to review classifications for Congenital trigeminal anesthesia in Orphanet.

Professional guidelines

PubMed

Belkin DA, Jeon H, Weiss E, Brauer JA, Geronemus RG
Lasers Surg Med 2018 Jan;50(1):56-60. Epub 2017 Nov 13 doi: 10.1002/lsm.22757. PMID: 29131366
Mantelli F, Nardella C, Tiberi E, Sacchetti M, Bruscolini A, Lambiase A
Biomed Res Int 2015;2015:805876. Epub 2015 Sep 16 doi: 10.1155/2015/805876. PMID: 26451380Free PMC Article

Recent clinical studies

Etiology

Wong VA, Cline RA, Dubord PJ, Rees M
Am J Ophthalmol 2000 Jan;129(1):96-8. doi: 10.1016/s0002-9394(99)00290-1. PMID: 10653422

Diagnosis

Wong VA, Cline RA, Dubord PJ, Rees M
Am J Ophthalmol 2000 Jan;129(1):96-8. doi: 10.1016/s0002-9394(99)00290-1. PMID: 10653422
Keys CL, Sugar J, Mafee MF
Arch Ophthalmol 1990 Dec;108(12):1720-3. doi: 10.1001/archopht.1990.01070140074032. PMID: 2256843

Prognosis

Wong VA, Cline RA, Dubord PJ, Rees M
Am J Ophthalmol 2000 Jan;129(1):96-8. doi: 10.1016/s0002-9394(99)00290-1. PMID: 10653422

Supplemental Content

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