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Orofacial cleft 13(OFC13)

MedGen UID:: 462572
•Concept ID:: C3151222
•: Disease or Syndrome

Synonym:	OFC13

Monarch Initiative:	MONDO:0013466
OMIM®:	613857

Clinical features

From HPO

Micrognathia

MedGen UID:: 44428
•Concept ID:: C0025990
•: Congenital Abnormality

Developmental hypoplasia of the mandible.

See: Feature record | Search on this feature

Retrognathia

MedGen UID:: 19766
•Concept ID:: C0035353
•: Congenital Abnormality

An abnormality in which the mandible is mislocalised posteriorly.

See: Feature record | Search on this feature

Malar flattening

MedGen UID:: 347616
•Concept ID:: C1858085
•: Finding

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

See: Feature record | Search on this feature

Cleft soft palate

MedGen UID:: 98471
•Concept ID:: C0432098
•: Congenital Abnormality

Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.

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Oligodontia

MedGen UID:: 904670
•Concept ID:: C4082304
•: Congenital Abnormality

The absence of six or more teeth from the normal series by a failure to develop.

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Abnormality of head or neck
- Cleft soft palate
- Oligodontia
Abnormality of the musculoskeletal system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOrofacial cleft
- CROGVOrofacial cleft 1
- CROGVOrofacial cleft 2
- CROGVOrofacial cleft 3
- CROGVOrofacial cleft 4
- CROGVOrofacial cleft 5
- CROGVOrofacial cleft 8
- CROGVOrofacial cleft 9
- CROGVOrofacial cleft 10
- CROGVOrofacial cleft 11
- CROGVOrofacial cleft 12
- CROGVOrofacial cleft 13
- CROGVOrofacial cleft 6, susceptibility to

Phenotypic abnormality
- Abnormality of head or neck
  - Abnormality of the head
    - Craniofacial cleft
      - Orofacial cleft
        Orofacial cleft 13

Professional guidelines

PubMed

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital.

Moreira T, Dias M, Von Hafe M, Curval AR, Ramalho C, Maia AM, Moura CP; Orofacial Cleft Team of University Hospital Center of São João, EPE
Congenit Anom (Kyoto) 2023 Nov;63(6):195-199. Epub 2023 Aug 31 doi: 10.1111/cga.12538. PMID: 37653578

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Bromley R, Adab N, Bluett-Duncan M, Clayton-Smith J, Christensen J, Edwards K, Greenhalgh J, Hill RA, Jackson CF, Khanom S, McGinty RN, Tudur Smith C, Pulman J, Marson AG
Cochrane Database Syst Rev 2023 Aug 29;8(8):CD010224. doi: 10.1002/14651858.CD010224.pub3. PMID: 37647086 Free PMC Article

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

See all (13)

Recent clinical studies

Etiology

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285

Variations in Orofacial Clefts.

Jahanbin A, Jamalinasab A, Niazi AE
J Craniofac Surg 2021 Mar-Apr 01;32(2):e179-e182. doi: 10.1097/SCS.0000000000007027. PMID: 33705067

Feeding problems and gastrointestinal diseases in Down syndrome.

Ravel A, Mircher C, Rebillat AS, Cieuta-Walti C, Megarbane A
Arch Pediatr 2020 Jan;27(1):53-60. Epub 2019 Nov 26 doi: 10.1016/j.arcped.2019.11.008. PMID: 31784293

Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.

Sabbagh HJ, Hassan MH, Innes NP, Baik AA, Mossey PA
Cleft Palate Craniofac J 2014 Sep;51(5):501-13. Epub 2013 May 2 doi: 10.1597/12-209. PMID: 23638915

See all (196)

Diagnosis

Characterizing the microbiota of cleft lip and palate patients: a comprehensive review.

Gershater E, Liu Y, Xue B, Shin MK, Koo H, Zheng Z, Li C
Front Cell Infect Microbiol 2023;13:1159455. Epub 2023 Apr 18 doi: 10.3389/fcimb.2023.1159455. PMID: 37143743 Free PMC Article

Presentation and Management of Atypical Orofacial Clefts: A Single-Institution Experience for 13 Year Period.

James O, Sabo VY, Adamson OO, Otoghile B, Adekunle AA, Adeyemo WL, Ladeinde AL, Ogunlewe MO
Cleft Palate Craniofac J 2023 Feb;60(2):133-141. Epub 2021 Nov 17 doi: 10.1177/10556656211055012. PMID: 34787018

Feeding problems and gastrointestinal diseases in Down syndrome.

Ravel A, Mircher C, Rebillat AS, Cieuta-Walti C, Megarbane A
Arch Pediatr 2020 Jan;27(1):53-60. Epub 2019 Nov 26 doi: 10.1016/j.arcped.2019.11.008. PMID: 31784293

Associations between laterality of orofacial clefts and medical and academic outcomes.

Gallagher ER, Siebold B, Collett BR, Cox TC, Aziz V, Cunningham ML
Am J Med Genet A 2018 Feb;176(2):267-276. Epub 2017 Dec 12 doi: 10.1002/ajmg.a.38567. PMID: 29232056

Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.

Sabbagh HJ, Hassan MH, Innes NP, Baik AA, Mossey PA
Cleft Palate Craniofac J 2014 Sep;51(5):501-13. Epub 2013 May 2 doi: 10.1597/12-209. PMID: 23638915

See all (65)

Therapy

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Prevention of cleft lip and/or palate in A/J mice by licorice solution.

Chimedtseren I, Niimi T, Inoue M, Furukawa H, Imura H, Minami K, Garidkhuu A, Gantugs AE, Natsume N
Congenit Anom (Kyoto) 2023 Sep;63(5):141-146. Epub 2023 Jun 3 doi: 10.1111/cga.12527. PMID: 37269175

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285

Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.

Allagh KP, Shamanna BR, Murthy GV, Ness AR, Doyle P, Neogi SB, Pant HB; Wellcome Trust- PHFI Folic Acid project team
PLoS One 2015;10(3):e0118961. Epub 2015 Mar 13 doi: 10.1371/journal.pone.0118961. PMID: 25768737 Free PMC Article

Folic acid and orofacial clefts: a review of the evidence.

Wehby GL, Murray JC
Oral Dis 2010 Jan;16(1):11-9. doi: 10.1111/j.1601-0825.2009.01587.x. PMID: 20331806 Free PMC Article

See all (64)

Prognosis

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

Nord P, Ebanks AH, Peterson P, Iwarsson E, Harting MT, Burgos CM; Congenital Diaphragmatic Hernia Study Group
Pediatr Surg Int 2024 Oct 1;40(1):259. doi: 10.1007/s00383-024-05843-5. PMID: 39352580 Free PMC Article

The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome.

Swanson D, Struyk G, Ba'th F, Chinnadurai S, Roby BB
Cleft Palate Craniofac J 2024 Feb;61(2):231-234. Epub 2022 Nov 28 doi: 10.1177/10556656221140675. PMID: 36443936

Incidence of non-syndromic orofacial cleft during the COVID-19 pandemic in Saudi Arabia.

Sabbagh HJ, Alghamdi SM, Abdulhameed FD, Alhussain RM, Alrejaye NS, AlGudaibi LY, Sallout BI, Albaqawi BS, Alnamnakani EA, Brekeit LK, Alsharif MT, Alshaikh AB, Almalik MI, Aburiziza AJ, Al Soqih NS, Alqhtani FA, Alghamdi BM, Alraddadi AK, Aljohar AJ, Basri OA, Alamoudi RA
BMC Public Health 2023 Dec 19;23(1):2538. doi: 10.1186/s12889-023-17270-7. PMID: 38114928 Free PMC Article

The impact of changing cigarette smoking habits and smoke-free legislation on orofacial cleft incidence in the United Kingdom: Evidence from two time-series studies.

Fell M, Russell C, Medina J, Gillgrass T, Chummun S, Cobb ARM, Sandy J, Wren Y, Wills A, Lewis SJ
PLoS One 2021;16(11):e0259820. Epub 2021 Nov 24 doi: 10.1371/journal.pone.0259820. PMID: 34818369 Free PMC Article

Incidence, Risk Factors, and Mortality Associated With Orofacial Cleft Among Children in Ontario, Canada.

Malic CC, Lam M, Donelle J, Richard L, Vigod SN, Benchimol EI
JAMA Netw Open 2020 Feb 5;3(2):e1921036. doi: 10.1001/jamanetworkopen.2019.21036. PMID: 32049294

See all (33)

Clinical prediction guides

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285

Nonsyndromic cleft lip and palate, gastric cancer and tooth agenesis.

Cardoso EF, Martelli DR, Machado RA, Coletta RD, de Souza JD, Barbosa FT, de Figueiredo MF, Coelho LG, Martelli-Júnior H
Med Oral Patol Oral Cir Bucal 2018 Jan 1;23(1):e44-e48. doi: 10.4317/medoral.22132. PMID: 29274157 Free PMC Article

Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.

Sabbagh HJ, Hassan MH, Innes NP, Baik AA, Mossey PA
Cleft Palate Craniofac J 2014 Sep;51(5):501-13. Epub 2013 May 2 doi: 10.1597/12-209. PMID: 23638915

Folic acid and orofacial clefts: a review of the evidence.

Wehby GL, Murray JC
Oral Dis 2010 Jan;16(1):11-9. doi: 10.1111/j.1601-0825.2009.01587.x. PMID: 20331806 Free PMC Article

See all (86)

Recent systematic reviews

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Childhood Experiences and Perspectives of Individuals With Orofacial Clefts: A Qualitative Systematic Review.

Jensen ED, Poirier BF, Oliver KJ, Roberts R, Anderson PJ, Jamieson LM
Cleft Palate Craniofac J 2023 Jul;60(7):888-899. Epub 2022 Mar 7 doi: 10.1177/10556656221084542. PMID: 35254151

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285

Prevalence of Orofacial Clefts among Live Births in China: A Systematic Review and Meta-Analysis.

Wang M, Yuan Y, Wang Z, Liu D, Wang Z, Sun F, Wang P, Zhu H, Li J, Wu T, Beaty TH
Birth Defects Res 2017 Jul 17;109(13):1011-1019. Epub 2017 Jun 21 doi: 10.1002/bdr2.1043. PMID: 28635078 Free PMC Article

Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.

Sabbagh HJ, Hassan MH, Innes NP, Baik AA, Mossey PA
Cleft Palate Craniofac J 2014 Sep;51(5):501-13. Epub 2013 May 2 doi: 10.1597/12-209. PMID: 23638915

See all (15)

MedGen

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Orofacial cleft 13(OFC13)

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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