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Commissural facial cleft

MedGen UID:
462142
•Concept ID:
C3150792
•
Disease or Syndrome
Synonyms: COMMISSURAL CLEFT, ISOLATED; LATERAL CLEFT, ISOLATED; Macrostomia, isolated; TRANSVERSE CLEFT, ISOLATED
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0013300
OMIM®: 613545
Orphanet: ORPHA141276

Definition

Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally. Macrostomia is a rare anomaly, with an estimated incidence of 1 in 150,000 to 300,000 births and is most often associated with other anomalies. Unilateral macrostomia is more common than bilateral (summary by Hawkins et al., 1973). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCommissural facial cleft
Follow this link to review classifications for Commissural facial cleft in Orphanet.

Recent clinical studies

Etiology

Evaluation of Long-Term Outcomes of Transverse Facial Cleft Repair.
Kim JH, Lim SY
Cleft Palate Craniofac J 2024 Feb;61(2):326-331. Epub 2023 Dec 13 doi: 10.1177/10556656231207205. PMID: 38092680
Transverse facial cleft (macrostomia) repair: Modification of a traditional technique.
Zhou L, Zhu H, Shi D, Ren D, Cui Y, Zhao J, Hou Y, Xu T
J Plast Reconstr Aesthet Surg 2019 Dec;72(12):2041-2048. Epub 2019 Sep 9 doi: 10.1016/j.bjps.2019.08.003. PMID: 31562029
Anatomic approximation approach to correction of transverse facial clefts.
Tse RW, Knight RJ, Fisher DM
J Plast Reconstr Aesthet Surg 2018 Nov;71(11):1600-1608. Epub 2018 Jun 12 doi: 10.1016/j.bjps.2018.05.020. PMID: 30327120
Commissural symmetry in unilateral transverse facial cleft patients: an anthropometric study.
Li J, Liu K, Sbi J, Wang Y, Zbeng Q, Sbi B
J Oral Maxillofac Surg 2012 Sep;70(9):2184-90. Epub 2011 Dec 30 doi: 10.1016/j.joms.2011.10.005. PMID: 22209106
Congenital macrostomia--transverse facial cleft.
Chen KT, Noordholff SM
Changgeng Yi Xue Za Zhi 1994 Sep;17(3):239-47. PMID: 7954003

Diagnosis

Three-Dimensional Motion Capture of a Smile in Repaired Unilateral Cleft Lip: What's Our Vector, Victor?
Seaward JR, Ainuz BY, Zhao C, Hallac RR
J Craniofac Surg 2022 Mar-Apr 01;33(2):469-474. doi: 10.1097/SCS.0000000000008189. PMID: 34545050
Analysis of Facial Movement in Repaired Unilateral Cleft Lip Using Three-Dimensional Motion Capture.
Zhao C, Hallac RR, Seaward JR
J Craniofac Surg 2021 Sep 1;32(6):2074-2077. doi: 10.1097/SCS.0000000000007636. PMID: 33770029
Cephalometric evaluation of upper lip symmetry after functional unilateral cleft lip repair with the Kernahan and Bauer technique and primary cleft rhinoplasty.
Margulis A, Alperson E, Billig A
Isr Med Assoc J 2014 Nov;16(11):693-6. PMID: 25558697
Van der Woude syndrome: report of two cases with supplementary findings.
More CB, Varma S, Tailor M, Bhavsar K
Indian J Dent Res 2013 May-Jun;24(3):387-9. doi: 10.4103/0970-9290.118015. PMID: 24025891
The Tessier number 5 cleft: a report of two cases and a review of the literature.
Galante G, Dado DV
Plast Reconstr Surg 1991 Jul;88(1):131-5. PMID: 2052642

Therapy

Assessing Gaze Patterns in Common Cosmetic Procedures With Eye-Tracking Technology.
Peterson DJ, Azad AD, Gkorila A, Patel AA, Boudreault MS, Nazerali RS
Ann Plast Surg 2020 May;84(5S Suppl 4):S268-S272. doi: 10.1097/SAP.0000000000002387. PMID: 32294074
Cephalometric evaluation of upper lip symmetry after functional unilateral cleft lip repair with the Kernahan and Bauer technique and primary cleft rhinoplasty.
Margulis A, Alperson E, Billig A
Isr Med Assoc J 2014 Nov;16(11):693-6. PMID: 25558697
Commissural symmetry in unilateral transverse facial cleft patients: an anthropometric study.
Li J, Liu K, Sbi J, Wang Y, Zbeng Q, Sbi B
J Oral Maxillofac Surg 2012 Sep;70(9):2184-90. Epub 2011 Dec 30 doi: 10.1016/j.joms.2011.10.005. PMID: 22209106
The in utero repair of Tessier number 7 lateral facial clefts created by amniotic band-like compression.
Stelnicki EJ, Hoffman W, Foster R, Lopoo J, Longaker M
J Craniofac Surg 1998 Nov;9(6):557-62; discussion 563. doi: 10.1097/00001665-199811000-00012. PMID: 10029770

Prognosis

Surgical repair for transverse facial cleft: two flaps with a superiorly rotated single Z-plasty lateral to the commissure.
Zhou P, Qiu L, Liu Y, Li T, Ding X
J Plast Surg Hand Surg 2019 Aug;53(4):240-246. Epub 2019 May 22 doi: 10.1080/2000656X.2019.1588739. PMID: 31116613
Anatomic approximation approach to correction of transverse facial clefts.
Tse RW, Knight RJ, Fisher DM
J Plast Reconstr Aesthet Surg 2018 Nov;71(11):1600-1608. Epub 2018 Jun 12 doi: 10.1016/j.bjps.2018.05.020. PMID: 30327120
Success and failure for children born with facial clefts in Africa: a 15-year follow-up.
de Buys Roessingh AS, Dolci M, Zbinden-Trichet C, Bossou R, Meyrat BJ, Hohlfeld J
World J Surg 2012 Aug;36(8):1963-9. doi: 10.1007/s00268-012-1607-z. PMID: 22538390
Commissural symmetry in unilateral transverse facial cleft patients: an anthropometric study.
Li J, Liu K, Sbi J, Wang Y, Zbeng Q, Sbi B
J Oral Maxillofac Surg 2012 Sep;70(9):2184-90. Epub 2011 Dec 30 doi: 10.1016/j.joms.2011.10.005. PMID: 22209106
Repair of transverse facial cleft in hemifacial microsomia: long-term anthropometric evaluation of commissural symmetry.
Rogers GF, Mulliken JB
Plast Reconstr Surg 2007 Sep;120(3):728-737. doi: 10.1097/01.prs.0000270308.51699.40. PMID: 17700125

Clinical prediction guides

Evaluation of Long-Term Outcomes of Transverse Facial Cleft Repair.
Kim JH, Lim SY
Cleft Palate Craniofac J 2024 Feb;61(2):326-331. Epub 2023 Dec 13 doi: 10.1177/10556656231207205. PMID: 38092680
Early Cleft Lip Repair: Demonstrating Efficacy in the First 100 Patients.
Wlodarczyk JR, Wolfswinkel EM, Liu A, Fahradyan A, Higuchi E, Goel P, Urata MM, Magee WP 3rd, Hammoudeh JA
Plast Reconstr Surg 2022 Nov 1;150(5):1073-1080. Epub 2022 Aug 24 doi: 10.1097/PRS.0000000000009634. PMID: 35998144
Transverse facial cleft (macrostomia) repair: Modification of a traditional technique.
Zhou L, Zhu H, Shi D, Ren D, Cui Y, Zhao J, Hou Y, Xu T
J Plast Reconstr Aesthet Surg 2019 Dec;72(12):2041-2048. Epub 2019 Sep 9 doi: 10.1016/j.bjps.2019.08.003. PMID: 31562029
Surgical repair for transverse facial cleft: two flaps with a superiorly rotated single Z-plasty lateral to the commissure.
Zhou P, Qiu L, Liu Y, Li T, Ding X
J Plast Surg Hand Surg 2019 Aug;53(4):240-246. Epub 2019 May 22 doi: 10.1080/2000656X.2019.1588739. PMID: 31116613
Commissural symmetry in unilateral transverse facial cleft patients: an anthropometric study.
Li J, Liu K, Sbi J, Wang Y, Zbeng Q, Sbi B
J Oral Maxillofac Surg 2012 Sep;70(9):2184-90. Epub 2011 Dec 30 doi: 10.1016/j.joms.2011.10.005. PMID: 22209106

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