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Paramedian nasal cleft

MedGen UID:
1681273
Concept ID:
C4759655
Congenital Abnormality
Synonyms: Alar cleft; alar cleft; Alar rim cleft; alar rim cleft; Cleft nose; cleft nose; Congenital cleft nose; Isolated cleft of the ala nasi; isolated cleft of the ala nasi; isolated coloboma of the nose; Isolated coloboma of the nose; paramedian nasal cleft; Tessier number 1 cleft
SNOMED CT: Cleft nose (204521002); Congenital cleft nose (204521002)
 
Monarch Initiative: MONDO:0015414
Orphanet: ORPHA141242

Definition

Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParamedian nasal cleft

Recent clinical studies

Etiology

Rüegg EM, Bartoli A, Rilliet B, Scolozzi P, Montandon D, Pittet-Cuénod B
J Plast Reconstr Aesthet Surg 2019 Apr;72(4):676-684. Epub 2019 Jan 9 doi: 10.1016/j.bjps.2019.01.001. PMID: 30691993
Marchac D, Sati S, Renier D, Deschamps-Braly J, Marchac A
Plast Reconstr Surg 2012 Mar;129(3):713-727. doi: 10.1097/PRS.0b013e3182402db1. PMID: 22090248
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195
Moore MH
J Craniofac Surg 1996 Nov;7(6):408-11. doi: 10.1097/00001665-199611000-00003. PMID: 10332258
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

Diagnosis

Pensler JM, Giese S, Charrow J
J Craniofac Surg 1993 Jan;4(1):2-5; discussion 6-7. doi: 10.1097/00001665-199301000-00002. PMID: 8467017
Moore MH, Edwards TJ, David DJ
J Craniofac Surg 1991 Jul;2(2):82-4; discussion 85. doi: 10.1097/00001665-199102020-00011. PMID: 1814488

Therapy

Leonard AL, Hanke CW
J Drugs Dermatol 2006 May;5(5):454-6. PMID: 16703783

Prognosis

Prada JR, Mendoza MB
J Craniofac Surg 2014 Sep;25(5):1864-6. doi: 10.1097/SCS.0000000000000986. PMID: 25203583
Marchac D, Sati S, Renier D, Deschamps-Braly J, Marchac A
Plast Reconstr Surg 2012 Mar;129(3):713-727. doi: 10.1097/PRS.0b013e3182402db1. PMID: 22090248
Ortiz Monasterio F, Molina F, Sigler A, Dahan P, Alvarez L
J Craniofac Surg 1996 Nov;7(6):440-8. doi: 10.1097/00001665-199611000-00010. PMID: 10332264
Pensler JM, Giese S, Charrow J
J Craniofac Surg 1993 Jan;4(1):2-5; discussion 6-7. doi: 10.1097/00001665-199301000-00002. PMID: 8467017
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

Clinical prediction guides

Klinger M, Klinger F, Battistini A, Lisa A, Maione L, Caviggioli F, Vinci V
J Craniofac Surg 2021 Mar-Apr 01;32(2):642-646. doi: 10.1097/SCS.0000000000007028. PMID: 33705000
Prada JR, Mendoza MB
J Craniofac Surg 2014 Sep;25(5):1864-6. doi: 10.1097/SCS.0000000000000986. PMID: 25203583
Savastano CP, Bernardi P, Seuánez HN, Moreira MÂ, Orioli IM
Birth Defects Res A Clin Mol Teratol 2014 Apr;100(4):300-6. Epub 2014 Feb 12 doi: 10.1002/bdra.23216. PMID: 24677696
Garabedian EN, Ducroz V, Roger G, Denoyelle F, Catala M
J Craniofac Genet Dev Biol 1999 Jan-Mar;19(1):12-9. PMID: 10378143
DeMyer W
Birth Defects Orig Artic Ser 1975;11(7):155-81. PMID: 764897

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