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Midline cleft of lower lip

MedGen UID:
1389145
Concept ID:
C4518460
Congenital Abnormality
Synonym: Median cleft lip/mandibule
SNOMED CT: Midline cleft of lower lip (723383005); Median cleft lower facial stage (723383005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016062
Orphanet: ORPHA2006

Definition

Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in the Tessier classification. Less than 70 cases have been described worldwide. These cases show a broad variation in severity, ranging from a simple notch in the vermillion to a complete cleft of the lip involving the tongue, the chin, the mandible, the supporting structures of the median of the neck and the manubrium sterni. The tongue is often attached to the cleft alveolar margin (ankyloglossia). Other associated anomalies were described in a number of cases such as absence or underdevelopment of the hyoid bone and/or thyroid cartilage. The only known familial cases were reported in 1936 with 18 affected individuals spanning four generations. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMidline cleft of lower lip

Recent clinical studies

Etiology

Poupore NS, Chidarala S, Nguyen SA, Teufel RJ 2nd, Patel KG, Pecha PP, Carroll WW
Cleft Palate Craniofac J 2024 Jan;61(1):94-102. Epub 2022 Jul 29 doi: 10.1177/10556656221117435. PMID: 35903934
Davies KJM, Richmond S, Medeiros-Mirra RJ, Abbas HH, Wilson-Nagrani CE, Davis MG, Zhurov A
J Orthod 2022 Dec;49(4):403-411. Epub 2022 Jun 19 doi: 10.1177/14653125221094337. PMID: 35723071Free PMC Article
White CM, Hanna MK
J Pediatr Urol 2018 Oct;14(5):422.e1-422.e5. Epub 2018 May 30 doi: 10.1016/j.jpurol.2018.04.028. PMID: 29907446
Zhao ZM, Zhu Y, Huo R, Su JR, Gao F
J Craniofac Surg 2014 Nov;25(6):1939-42. doi: 10.1097/SCS.0000000000001039. PMID: 25329850
Castillo M, Mukherji SK
Curr Probl Diagn Radiol 1995 Sep-Oct;25(5):169-88. PMID: 8889386

Diagnosis

Chandrasekar S, Tanwar NS, Saha S
BMJ Case Rep 2024 May 23;17(5) doi: 10.1136/bcr-2023-256745. PMID: 38782441
Li SL, Li KY, Wang YQ
J Craniofac Surg 2022 Nov-Dec 01;33(8):e831-e834. Epub 2022 Aug 17 doi: 10.1097/SCS.0000000000008764. PMID: 36409858
Seyhan T, Kýlýnr H
Ann Otol Rhinol Laryngol 2002 Mar;111(3 Pt 1):217-21. doi: 10.1177/000348940211100305. PMID: 11913681
Castillo M, Mukherji SK
Curr Probl Diagn Radiol 1995 Sep-Oct;25(5):169-88. PMID: 8889386
Musarella MA, Young ID
Am J Med Genet Suppl 1986;2:135-41. doi: 10.1002/ajmg.1320250617. PMID: 3146283

Therapy

Seo HJ, Denadai R, Vamvanij N, Chinpaisarn C, Lo LJ
Plast Reconstr Surg 2020 May;145(5):1223-1236. doi: 10.1097/PRS.0000000000006744. PMID: 32332542
Jabbour N, Chinnadurai S, Wootten CT, Cofer SA, Goudy SL
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1833-6. Epub 2014 Aug 2 doi: 10.1016/j.ijporl.2014.07.032. PMID: 25183377
Erol OO, Pence M, Agaoglu G
J Craniofac Surg 2007 Jul;18(4):766-72. doi: 10.1097/scs.0b013e318068438b. PMID: 17667662
Smahel Z, Trefný P, Formánek P, Müllerová Z, Peterka M
Cleft Palate Craniofac J 2004 Jul;41(4):416-23. doi: 10.1597/03-053.1. PMID: 15298002

Prognosis

Okawachi T, Nozoe E, Nishihara K, Nakamura N
J Oral Maxillofac Surg 2011 Feb;69(2):322-32. Epub 2010 Dec 3 doi: 10.1016/j.joms.2010.05.057. PMID: 21122970
Morritt DG, Goodacre TE, Wall SA
J Craniofac Surg 2007 May;18(3):704-6. doi: 10.1097/scs.0b013e318052e2ce. PMID: 17538343
Nyberg DA, Sickler GK, Hegge FN, Kramer DJ, Kropp RJ
Radiology 1995 Jun;195(3):677-84. doi: 10.1148/radiology.195.3.7753993. PMID: 7753993
Ortiz Monasterio F, Ruas EJ
Clin Plast Surg 1989 Jan;16(1):177-86. PMID: 2647343
Bergevin MA, Sheft S, Myer C 3rd, McAdams AJ
Pediatr Pathol 1989;9(6):731-9. doi: 10.3109/15513818909022380. PMID: 2602229

Clinical prediction guides

Marius-Nunez AL, Wasiak DT
Clin Genet 2015 Oct;88(4):336-8. Epub 2015 Jun 16 doi: 10.1111/cge.12619. PMID: 26010214
Zhao ZM, Zhu Y, Huo R, Su JR, Gao F
J Craniofac Surg 2014 Nov;25(6):1939-42. doi: 10.1097/SCS.0000000000001039. PMID: 25329850
Morritt DG, Goodacre TE, Wall SA
J Craniofac Surg 2007 May;18(3):704-6. doi: 10.1097/scs.0b013e318052e2ce. PMID: 17538343
Blavier L, Lazaryev A, Groffen J, Heisterkamp N, DeClerck YA, Kaartinen V
Mol Biol Cell 2001 May;12(5):1457-66. doi: 10.1091/mbc.12.5.1457. PMID: 11359935Free PMC Article
Ortiz Monasterio F, Ruas EJ
Clin Plast Surg 1989 Jan;16(1):177-86. PMID: 2647343

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