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Orofacial cleft 11(OFC11)

MedGen UID:
436944
Concept ID:
C2677434
Disease or Syndrome
Synonyms: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11; OFC11; Orofacial cleft 11; ofc11
Modes of inheritance:
Familial predisposition
MedGen UID:
871277
Concept ID:
C4025765
Genetic Function
Source: HPO
 
Gene (location): BMP4 (14q22.2)
OMIM®: 600625

Definition

Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). [from OMIM]

Clinical features

Cleft lip/palate
MedGen UID:
57640
Concept ID:
C0158646
Finding
Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the palate. With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention.
Facial cleft
MedGen UID:
146898
Concept ID:
C0685787
Congenital Abnormality
A congenital malformation with a cleft (gap or opening) in the face.

Recent clinical studies

Etiology

Monlleó IL, Barros AG, Fontes MI, Andrade AK, Brito Gde M, Nascimento DL, Gil-da-Silva-Lopes VL
J Pediatr (Rio J) 2015 Sep-Oct;91(5):485-92. Epub 2015 Jun 4 doi: 10.1016/j.jped.2014.12.001. [Epub ahead of print] PMID: 26051442
Conway JC, Taub PJ, Kling R, Oberoi K, Doucette J, Jabs EW
BMC Pediatr 2015 Feb 14;15:8. doi: 10.1186/s12887-015-0328-5. [Epub ahead of print] PMID: 25884320Free PMC Article
Cassell CH, Strassle P, Mendez DD, Lee KA, Krohmer A, Meyer RE, Strauss RP
Birth Defects Res A Clin Mol Teratol 2014 Nov;100(11):837-47. Epub 2014 Sep 8 doi: 10.1002/bdra.23303. [Epub ahead of print] PMID: 25200965Free PMC Article
Honein MA, Devine O, Grosse SD, Reefhuis J
Birth Defects Res A Clin Mol Teratol 2014 Nov;100(11):822-5. Epub 2014 Jul 8 doi: 10.1002/bdra.23274. [Epub ahead of print] PMID: 25045059Free PMC Article
Peterka M, Hrudka J, Tvrdek M, Velemínská J, Panczak A, Borský J, Likovský Z, Peterková R
Acta Chir Plast 2012;54(2):39-44. PMID: 23565843

Diagnosis

Roosenboom J, Claes P, Devriendt K, Dormaar T, Peeters H, Saey I, Schoenaers J, Vander Poorten V, Verdonck A, Hens G
B-ENT 2015;11(3):173-82. PMID: 26601549
Monlleó IL, Barros AG, Fontes MI, Andrade AK, Brito Gde M, Nascimento DL, Gil-da-Silva-Lopes VL
J Pediatr (Rio J) 2015 Sep-Oct;91(5):485-92. Epub 2015 Jun 4 doi: 10.1016/j.jped.2014.12.001. [Epub ahead of print] PMID: 26051442
Sabbagh HJ, Hassan MH, Innes NP, Elkodary HM, Little J, Mossey PA
PLoS One 2015;10(3):e0116963. Epub 2015 Mar 11 doi: 10.1371/journal.pone.0116963. PMID: 25760440Free PMC Article
Kuijpers MA, Pazera A, Admiraal RJ, Bergé SJ, Vissink A, Pazera P
Clin Oral Investig 2014 May;18(4):1237-44. Epub 2013 Aug 27 doi: 10.1007/s00784-013-1095-z. [Epub ahead of print] PMID: 23979354
Reddy SG, Reddy RR, Vaidhyanathan A, Markus A, Snook J
Int J Oral Maxillofac Surg 2013 Nov;42(11):1424-6. Epub 2013 May 8 doi: 10.1016/j.ijom.2013.03.021. [Epub ahead of print] PMID: 23664420

Therapy

Conway JC, Taub PJ, Kling R, Oberoi K, Doucette J, Jabs EW
BMC Pediatr 2015 Feb 14;15:8. doi: 10.1186/s12887-015-0328-5. [Epub ahead of print] PMID: 25884320Free PMC Article
Sabbagh HJ, Hassan MH, Innes NP, Elkodary HM, Little J, Mossey PA
PLoS One 2015;10(3):e0116963. Epub 2015 Mar 11 doi: 10.1371/journal.pone.0116963. PMID: 25760440Free PMC Article
Honein MA, Devine O, Grosse SD, Reefhuis J
Birth Defects Res A Clin Mol Teratol 2014 Nov;100(11):822-5. Epub 2014 Jul 8 doi: 10.1002/bdra.23274. [Epub ahead of print] PMID: 25045059Free PMC Article
Martinez-Ten P, Adiego B, Illescas T, Bermejo C, Wong AE, Sepulveda W
Ultrasound Obstet Gynecol 2012 Jul;40(1):40-6. doi: 10.1002/uog.10139. PMID: 22081485
Jia ZL, Shi B, Chen CH, Shi JY, Wu J, Xu X
Oral Dis 2011 Sep;17(6):584-9. Epub 2011 Apr 28 doi: 10.1111/j.1601-0825.2011.01810.x. [Epub ahead of print] PMID: 21535328

Prognosis

Ajike SO, Adebola RA, Efunkoya A, Adeoye J, Akitoye O, Veror N
Ann Afr Med 2013 Jan-Mar;12(1):11-5. doi: 10.4103/1596-3519.108243. PMID: 23480989
Pavri S, Forrest CR
Cleft Palate Craniofac J 2013 Mar;50(2):224-30. Epub 2011 Sep 9 doi: 10.1597/10-223. [Epub ahead of print] PMID: 21905911
Silberstein E, Silberstein T, Elhanan E, Bar-Droma E, Bogdanov-Berezovsky A, Rosenberg L
Isr Med Assoc J 2012 Jun;14(6):378-81. PMID: 22891400
Sen I, Kumar S, Bhardwaj N, Wig J
Paediatr Anaesth 2009 Feb;19(2):159-63. doi: 10.1111/j.1460-9592.2008.02870.x. PMID: 19207900
Magdalenić-Mestrović M, Bagatin M
J Craniomaxillofac Surg 2005 Apr;33(2):85-90. doi: 10.1016/j.jcms.2005.01.002. PMID: 15804585

Clinical prediction guides

Han Y, Zhou L, Ma L, Li D, Xu M, Yuan H, Ma J, Zhang W, Jiang H, Wu Y, Wang L, Pan Y
J Oral Pathol Med 2014 Aug;43(7):554-60. Epub 2014 Feb 1 doi: 10.1111/jop.12162. [Epub ahead of print] PMID: 24484320
Pavri S, Forrest CR
Cleft Palate Craniofac J 2013 Mar;50(2):224-30. Epub 2011 Sep 9 doi: 10.1597/10-223. [Epub ahead of print] PMID: 21905911
Mostowska A, Hozyasz KK, Wójcicki P, Lasota A, Dunin-Wilczyńska I, Jagodziński PP
Birth Defects Res A Clin Mol Teratol 2012 Nov;94(11):943-50. Epub 2012 Aug 6 doi: 10.1002/bdra.23056. [Epub ahead of print] PMID: 22887353
Munsie JW, Lin S, Browne ML, Campbell KA, Caton AR, Bell EM, Rasmussen SA, Romitti PA, Druschel CM; National Birth Defects Prevention Study
Hum Reprod 2011 Nov;26(11):3147-54. Epub 2011 Sep 15 doi: 10.1093/humrep/der315. [Epub ahead of print] PMID: 21926056
Manyama M, Rolian C, Gilyoma J, Magori CC, Mjema K, Mazyala E, Kimwaga E, Hallgrimsson B
BMC Oral Health 2011 Feb 2;11:5. doi: 10.1186/1472-6831-11-5. [Epub ahead of print] PMID: 21288337Free PMC Article

Recent systematic reviews

Panamonta V, Pradubwong S, Panamonta M, Chowchuen B
J Med Assoc Thai 2015 Aug;98 Suppl 7:S22-7. PMID: 26742365
Sabbagh HJ, Hassan MH, Innes NP, Elkodary HM, Little J, Mossey PA
PLoS One 2015;10(3):e0116963. Epub 2015 Mar 11 doi: 10.1371/journal.pone.0116963. PMID: 25760440Free PMC Article
Dostal A, Nemeckova J, Gaillyova R
J Craniomaxillofac Surg 2009 Jul;37(5):272-5. Epub 2009 Jan 20 doi: 10.1016/j.jcms.2008.12.002. [Epub ahead of print] PMID: 19157891
Verkleij-Hagoort A, Bliek J, Sayed-Tabatabaei F, Ursem N, Steegers E, Steegers-Theunissen R
Am J Med Genet A 2007 May 1;143A(9):952-60. doi: 10.1002/ajmg.a.31684. PMID: 17431894

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