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Median cleft of the upper lip and maxilla

MedGen UID:
784645
Concept ID:
C3697381
Congenital Abnormality
Synonyms: Median cleft lip and cleft of alveolar process of maxilla; median cleft of the upper lip and maxilla
SNOMED CT: Median cleft lip and cleft of alveolar process of maxilla (699700006)
 
Monarch Initiative: MONDO:0015413
Orphanet: ORPHA141239

Definition

Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMedian cleft of the upper lip and maxilla

Recent clinical studies

Etiology

Gateno J, Kim D, Bartlett S, Gonzalez C, Xu J, Xia JJ
Int J Oral Maxillofac Surg 2023 Sep;52(9):971-980. Epub 2023 Feb 20 doi: 10.1016/j.ijom.2023.01.020. PMID: 36813600
Esmeraldo Gurgel Maia LH, Wain Thi Lau G, Mendonça Copello F, Sant'Anna EF, Figueroa AA
J Craniofac Surg 2021 Mar-Apr 01;32(2):e195-e198. doi: 10.1097/SCS.0000000000007101. PMID: 33705072
Choi HY, Hwang CJ, Kim HJ, Yu HS, Cha JY
J Craniofac Surg 2012 May;23(3):706-11. doi: 10.1097/SCS.0b013e31824dba4d. PMID: 22565878
Oosterkamp BC, Dijkstra PU, Remmelink HJ, van Oort RP, Sandham A
Cleft Palate Craniofac J 2010 Nov;47(6):591-6. doi: 10.1597/09-092. PMID: 21039278

Clinical prediction guides

Esmeraldo Gurgel Maia LH, Wain Thi Lau G, Mendonça Copello F, Sant'Anna EF, Figueroa AA
J Craniofac Surg 2021 Mar-Apr 01;32(2):e195-e198. doi: 10.1097/SCS.0000000000007101. PMID: 33705072
Choi HY, Hwang CJ, Kim HJ, Yu HS, Cha JY
J Craniofac Surg 2012 May;23(3):706-11. doi: 10.1097/SCS.0b013e31824dba4d. PMID: 22565878
Oosterkamp BC, Dijkstra PU, Remmelink HJ, van Oort RP, Sandham A
Cleft Palate Craniofac J 2010 Nov;47(6):591-6. doi: 10.1597/09-092. PMID: 21039278

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