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Submucous cleft lip

MedGen UID:
326445
Concept ID:
C1839277
Finding
Synonym: Submucous labial cleft
 
HPO: HP:0009101

Definition

A cleft of the lip with overlying mucous membrane. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSubmucous cleft lip

Conditions with this feature

Simpson-Golabi-Behmel syndrome type 1
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.

Recent clinical studies

Etiology

Martin SV, Swan MC
Br Dent J 2023 Jun;234(12):937-942. Epub 2023 Jun 23 doi: 10.1038/s41415-023-6000-9. PMID: 37349450
Du CJ, Zhou X, Ma L
J Craniofac Surg 2022 Oct 1;33(7):2024-2027. Epub 2022 Jan 20 doi: 10.1097/SCS.0000000000008458. PMID: 35067530Free PMC Article
Abdulrauf BMI, Mater ME
J Craniofac Surg 2022 Mar-Apr 01;33(2):413-417. doi: 10.1097/SCS.0000000000008108. PMID: 34519704Free PMC Article
Wenger TL, Perkins J, Parish-Morris J, Hing AV, Chen ML, Cielo CM, Li D, Bhoj EJ, Hakonarson H, Zackai E, McDonald-McGinn DM, Taylor JA, Jackson O, Sie K, Bly R, Dahl J, Evans KN
Am J Med Genet A 2021 Dec;185(12):3694-3700. Epub 2021 Jul 22 doi: 10.1002/ajmg.a.62430. PMID: 34291880
Schwartz JP, Garib DG
Eur J Orthod 2021 Aug 3;43(4):394-398. doi: 10.1093/ejo/cjab003. PMID: 33615332

Diagnosis

Du CJ, Zhou X, Ma L
J Craniofac Surg 2022 Oct 1;33(7):2024-2027. Epub 2022 Jan 20 doi: 10.1097/SCS.0000000000008458. PMID: 35067530Free PMC Article
Wheeler JS, Sanders M
J Craniofac Surg 2022 Mar-Apr 01;33(2):607-609. doi: 10.1097/SCS.0000000000008135. PMID: 34519712
Boyce JO, Kilpatrick N, Morgan AT
Child Care Health Dev 2018 Nov;44(6):818-831. Epub 2018 Aug 22 doi: 10.1111/cch.12613. PMID: 30136310
Bell JC, Raynes-Greenow C, Bower C, Turner RM, Roberts CL, Nassar N
Birth Defects Res A Clin Mol Teratol 2013 Feb;97(2):101-8. Epub 2013 Feb 1 doi: 10.1002/bdra.23110. PMID: 23371924
Pryor LS, Lehman J, Parker MG, Schmidt A, Fox L, Murthy AS
Cleft Palate Craniofac J 2006 Mar;43(2):222-5. doi: 10.1597/04-115.1. PMID: 16526928

Therapy

Mushi E, Mahdi N, Upile N, Hevican C, McKernon S, van Eeden S, De S
J Laryngol Otol 2020 Mar;134(3):252-255. Epub 2020 Mar 6 doi: 10.1017/S002221512000047X. PMID: 32138804
Harila V, Ylikontiola LP, Sándor GK
Eur J Paediatr Dent 2014 Dec;15(4):389-91. PMID: 25517586
Bell JC, Raynes-Greenow C, Bower C, Turner RM, Roberts CL, Nassar N
Birth Defects Res A Clin Mol Teratol 2013 Feb;97(2):101-8. Epub 2013 Feb 1 doi: 10.1002/bdra.23110. PMID: 23371924
Rozendaal AM, Luijsterburg AJ, Mohangoo AD, Ongkosuwito EM, de Vries E, Vermeij-Keers C
Cleft Palate Craniofac J 2012 Sep;49(5):609-17. Epub 2010 Nov 23 doi: 10.1597/10-109. PMID: 21091368
Bicknell S, McFadden LR, Curran JB
J Can Dent Assoc 2002 Dec;68(11):688-92. PMID: 12513937

Prognosis

Cao C, Xu X, Yin H, Zheng Q, Xu C, Shi B
Cleft Palate Craniofac J 2023 Oct;60(10):1260-1266. Epub 2022 May 9 doi: 10.1177/10556656221100125. PMID: 35532048
Sales SAG, Santos ML, Machado RA, Dias VO, Nascimento JE, Swerts MSO, Júnior HM, Martelli DRB
Braz J Otorhinolaryngol 2018 Nov-Dec;84(6):687-690. Epub 2017 Aug 24 doi: 10.1016/j.bjorl.2017.08.004. PMID: 28886940Free PMC Article
Chorney SR, Commesso E, Tatum S
Otolaryngol Head Neck Surg 2017 Nov;157(5):861-866. Epub 2017 Jun 27 doi: 10.1177/0194599817703948. PMID: 28653561
Harris L, Cushing SL, Hubbard B, Fisher D, Papsin BC, James AL
Int J Pediatr Otorhinolaryngol 2013 May;77(5):695-8. Epub 2013 Feb 10 doi: 10.1016/j.ijporl.2013.01.020. PMID: 23402698
Ettinger RE, Oppenheimer AJ, Lau D, Hassan F, Newman MH, Buchman SR, Kasten SJ
J Craniofac Surg 2012 Nov;23(7 Suppl 1):1974-6. doi: 10.1097/SCS.0b013e31825b3ba9. PMID: 23154358

Clinical prediction guides

Martin SV, Swan MC
Br Dent J 2023 Jun;234(12):937-942. Epub 2023 Jun 23 doi: 10.1038/s41415-023-6000-9. PMID: 37349450
Cao C, Xu X, Yin H, Zheng Q, Xu C, Shi B
Cleft Palate Craniofac J 2023 Oct;60(10):1260-1266. Epub 2022 May 9 doi: 10.1177/10556656221100125. PMID: 35532048
Ghanem AM, Ghorbanian S, Borg TM, Sell D, Sommerlad BC
Cleft Palate Craniofac J 2023 Aug;60(8):980-985. Epub 2022 Mar 21 doi: 10.1177/10556656221088170. PMID: 35306868
Agnew CM, Foster Page LA, Hibbert S, Thomson WM
Cleft Palate Craniofac J 2020 Nov;57(11):1291-1297. Epub 2020 Jun 30 doi: 10.1177/1055665620936442. PMID: 32602353
Reiter R, Brosch S, Lüdeke M, Fischbein E, Rinckleb A, Haase S, Schwandt A, Pickhard A, Maier C, Högel J, Vogel W
Cleft Palate Craniofac J 2015 Jan;52(1):115-20. doi: 10.1597/13-016. PMID: 24437586

Recent systematic reviews

Boyce JO, Kilpatrick N, Morgan AT
Child Care Health Dev 2018 Nov;44(6):818-831. Epub 2018 Aug 22 doi: 10.1111/cch.12613. PMID: 30136310

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