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Cleft lip/palate

MedGen UID:
57640
•Concept ID:
C0158646
•
Congenital Abnormality; Finding
Synonym: Cleft lip and palate
SNOMED CT: Cleft palate with cleft lip (66948001); Cleft palate and lip (66948001)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016044
Orphanet: ORPHA199306

Definition

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft lip/palate

Professional guidelines

PubMed

Cleft Lip and Palate Midfacial Hypoplasia: Criteria to Choose the Treatment.
Fariña R, Lolas J, Moreno E, Alister JP, Uribe MF, Pantoja R, Valladares S, Arrué C
J Craniofac Surg 2022 Mar-Apr 01;33(2):496-501. doi: 10.1097/SCS.0000000000007973. PMID: 34261964
Global Nursing in Low-Resource and Middle-Resource Countries: Challenges and Opportunities in Perioperative Practice.
Pettorini K, Gullatte MM
Oral Maxillofac Surg Clin North Am 2020 Aug;32(3):437-445. Epub 2020 Jun 2 doi: 10.1016/j.coms.2020.04.009. PMID: 32507356
Prenatal diagnosis of cleft lip and cleft lip palate - a case series.
Marginean C, Sasarean V, Marginean CO, Melit LE, Marginean MO
Med Ultrason 2018 Dec 8;20(4):531-535. doi: 10.11152/mu-1582. PMID: 30534664

Recent clinical studies

Etiology

Antibiotic prophylaxis in oral and maxillofacial surgery: a systematic review.
Milic T, Raidoo P, Gebauer D
Br J Oral Maxillofac Surg 2021 Jul;59(6):633-642. Epub 2020 Sep 23 doi: 10.1016/j.bjoms.2020.09.020. PMID: 34016464
Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate.
Vieira AR, Letra A, Silva RM, Granjeiro JM, Shimizu T, Poletta FA, Mereb JC, Castilla EE, Orioli IM
J Craniofac Surg 2018 Mar;29(2):347-352. doi: 10.1097/SCS.0000000000004159. PMID: 29381645
Human facial dysostoses.
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Diagnosis

Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.
Guo S, Chen R, Xu Y, Mu Y, Chen L
J Craniofac Surg 2017 Jun;28(4):e349-e351. doi: 10.1097/SCS.0000000000003600. PMID: 28230601
Congenital atrichia and hypotrichosis.
Bennàssar A, Ferrando J, Grimalt R
World J Pediatr 2011 May;7(2):111-7. Epub 2011 May 15 doi: 10.1007/s12519-011-0262-z. PMID: 21574026
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Therapy

Antibiotic prophylaxis in oral and maxillofacial surgery: a systematic review.
Milic T, Raidoo P, Gebauer D
Br J Oral Maxillofac Surg 2021 Jul;59(6):633-642. Epub 2020 Sep 23 doi: 10.1016/j.bjoms.2020.09.020. PMID: 34016464
Biomaterials for Cleft Lip and Palate Regeneration.
Martín-Del-Campo M, Rosales-Ibañez R, Rojo L
Int J Mol Sci 2019 May 2;20(9) doi: 10.3390/ijms20092176. PMID: 31052503Free PMC Article
The dual role of ROS, antioxidants and autophagy in cancer.
Walton EL
Biomed J 2016 Apr;39(2):89-92. Epub 2016 Jun 8 doi: 10.1016/j.bj.2016.05.001. PMID: 27372163Free PMC Article
Complications following orthognathic surgery for patients with cleft lip/palate: A systematic review.
Yamaguchi K, Lonic D, Lo LJ
J Formos Med Assoc 2016 Apr;115(4):269-77. Epub 2015 Dec 11 doi: 10.1016/j.jfma.2015.10.009. PMID: 26686426
Schisis-association.
Czeizel A
Am J Med Genet 1981;10(1):25-35. doi: 10.1002/ajmg.1320100105. PMID: 7294060

Prognosis

Cleft Lip and Palate Repair Training to Bridge the Gap in Low-Income Countries.
Borg TM, Hong S, Ghanem A
J Craniofac Surg 2022 Jul-Aug 01;33(5):1331-1334. Epub 2022 Jan 10 doi: 10.1097/SCS.0000000000008420. PMID: 35013070Free PMC Article
Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Effects of lip revision surgery in cleft lip/palate patients.
Trotman CA, Faraway JJ, Phillips C, van Aalst J
J Dent Res 2010 Jul;89(7):728-32. Epub 2010 May 3 doi: 10.1177/0022034510365485. PMID: 20439935Free PMC Article
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Clinical prediction guides

Maternal Cigarette Smoking and Cleft Lip and Palate: A Systematic Review and Meta-Analysis.
Fell M, Dack K, Chummun S, Sandy J, Wren Y, Lewis S
Cleft Palate Craniofac J 2022 Sep;59(9):1185-1200. Epub 2021 Sep 27 doi: 10.1177/10556656211040015. PMID: 34569861Free PMC Article
Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
Dardani C, Howe LJ, Mukhopadhyay N, Stergiakouli E, Wren Y, Humphries K, Davies A, Ho K, Weinberg SM, Marazita ML, Mangold E, Ludwig KU, Relton CL, Davey Smith G, Lewis SJ, Sandy J, Davies NM, Sharp GC
Int J Epidemiol 2020 Aug 1;49(4):1282-1293. doi: 10.1093/ije/dyaa047. PMID: 32373937Free PMC Article
Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, Guilford P, Paredes J, Seruca R
J Med Genet 2019 Apr;56(4):199-208. Epub 2019 Jan 19 doi: 10.1136/jmedgenet-2018-105807. PMID: 30661051Free PMC Article
Holoprosencephaly.
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

Recent systematic reviews

Maternal Cigarette Smoking and Cleft Lip and Palate: A Systematic Review and Meta-Analysis.
Fell M, Dack K, Chummun S, Sandy J, Wren Y, Lewis S
Cleft Palate Craniofac J 2022 Sep;59(9):1185-1200. Epub 2021 Sep 27 doi: 10.1177/10556656211040015. PMID: 34569861Free PMC Article
Antibiotic prophylaxis in oral and maxillofacial surgery: a systematic review.
Milic T, Raidoo P, Gebauer D
Br J Oral Maxillofac Surg 2021 Jul;59(6):633-642. Epub 2020 Sep 23 doi: 10.1016/j.bjoms.2020.09.020. PMID: 34016464
Are people with an orofacial cleft at a higher risk of dental caries? A systematic review and meta-analysis.
Worth V, Perry R, Ireland T, Wills AK, Sandy J, Ness A
Br Dent J 2017 Jul 7;223(1):37-47. doi: 10.1038/sj.bdj.2017.581. PMID: 28684841
Complications following orthognathic surgery for patients with cleft lip/palate: A systematic review.
Yamaguchi K, Lonic D, Lo LJ
J Formos Med Assoc 2016 Apr;115(4):269-77. Epub 2015 Dec 11 doi: 10.1016/j.jfma.2015.10.009. PMID: 26686426
Hard palate repair timing and facial growth in cleft lip and palate: a systematic review.
Liao YF, Mars M
Cleft Palate Craniofac J 2006 Sep;43(5):563-70. doi: 10.1597/05-058. PMID: 16986982

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