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Mendelian syndromes with cleft lip/palate

MedGen UID:
1842690
•Concept ID:
C5680616
•
Disease or Syndrome
Synonym: Orofacial clefting syndrome
 
Orphanet: ORPHA139039

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mendelian syndromes with cleft lip/palate

Professional guidelines

PubMed

The genetics of isolated orofacial clefts: from genotypes to subphenotypes.
Jugessur A, Farlie PG, Kilpatrick N
Oral Dis 2009 Oct;15(7):437-53. Epub 2009 Jul 2 doi: 10.1111/j.1601-0825.2009.01577.x. PMID: 19583827
Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes.
Pryde PG, Qureshi F, Hallak M, Kupsky W, Johnson MP, Evans MI
Am J Med Genet 1993 Jun 15;46(5):537-41. doi: 10.1002/ajmg.1320460516. PMID: 8322817

Recent clinical studies

Therapy

Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
Dardani C, Howe LJ, Mukhopadhyay N, Stergiakouli E, Wren Y, Humphries K, Davies A, Ho K, Weinberg SM, Marazita ML, Mangold E, Ludwig KU, Relton CL, Davey Smith G, Lewis SJ, Sandy J, Davies NM, Sharp GC
Int J Epidemiol 2020 Aug 1;49(4):1282-1293. doi: 10.1093/ije/dyaa047. PMID: 32373937Free PMC Article
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.
Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC
Epigenomics 2019 Feb;11(2):133-145. Epub 2019 Jan 14 doi: 10.2217/epi-2018-0091. PMID: 30638414Free PMC Article
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
Howe LJ, Lee MK, Sharp GC, Davey Smith G, St Pourcain B, Shaffer JR, Ludwig KU, Mangold E, Marazita ML, Feingold E, Zhurov A, Stergiakouli E, Sandy J, Richmond S, Weinberg SM, Hemani G, Lewis SJ
PLoS Genet 2018 Aug;14(8):e1007501. Epub 2018 Aug 1 doi: 10.1371/journal.pgen.1007501. PMID: 30067744Free PMC Article
Selection bias and the use of controls with malformations in case-control studies of birth defects.
Lieff S, Olshan AF, Werler M, Savitz DA, Mitchell AA
Epidemiology 1999 May;10(3):238-41. PMID: 10230831

Prognosis

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.
Manojlovic Z, Auslander A, Jin Y, Schmidt RJ, Xu Y, Chang S, Song R, Ingles SA, Nunes A, Vavra KC, Feigelson D, Rakotoarison S, DiBona M, Magee K, Smile O, Ramamonjisoa A, Magee Iii W
Genes (Basel) 2023 Mar 7;14(3) doi: 10.3390/genes14030665. PMID: 36980938Free PMC Article
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T
Hum Mutat 2019 Oct;40(10):1813-1825. Epub 2019 Jun 18 doi: 10.1002/humu.23793. PMID: 31215115Free PMC Article
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
Ferrero GB, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC
Eur J Pediatr 2010 Feb;169(2):223-8. Epub 2009 Jun 18 doi: 10.1007/s00431-009-1011-3. PMID: 19536562
Le Fort III bipartition osteotomy to treat a rare craniofacial anomaly: frontofacionasal dysostosis.
Tunçbilek G, Alanay Y, Kayikçioğlu A
J Craniofac Surg 2009 Jul;20(4):1056-8. doi: 10.1097/scs.0b013e3181abb29f. PMID: 19634215
Orofacial cleft defects: inference from nature and nurture.
Houdayer C, Bahuau M
Ann Genet 1998;41(2):89-117. PMID: 9706339

Clinical prediction guides

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.
Manojlovic Z, Auslander A, Jin Y, Schmidt RJ, Xu Y, Chang S, Song R, Ingles SA, Nunes A, Vavra KC, Feigelson D, Rakotoarison S, DiBona M, Magee K, Smile O, Ramamonjisoa A, Magee Iii W
Genes (Basel) 2023 Mar 7;14(3) doi: 10.3390/genes14030665. PMID: 36980938Free PMC Article
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Lansdon LA, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, Bonde G, Long A, Standley J, Tyryshkina A, Wehby G, Lee NR, Daack-Hirsch S, Mohlke K, Girirajan S, Darbro BW, Cornell RA, Houston DW, Murray JC, Manak JR
Am J Hum Genet 2023 Jan 5;110(1):71-91. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.012. PMID: 36493769Free PMC Article
Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
Dardani C, Howe LJ, Mukhopadhyay N, Stergiakouli E, Wren Y, Humphries K, Davies A, Ho K, Weinberg SM, Marazita ML, Mangold E, Ludwig KU, Relton CL, Davey Smith G, Lewis SJ, Sandy J, Davies NM, Sharp GC
Int J Epidemiol 2020 Aug 1;49(4):1282-1293. doi: 10.1093/ije/dyaa047. PMID: 32373937Free PMC Article
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
Howe LJ, Lee MK, Sharp GC, Davey Smith G, St Pourcain B, Shaffer JR, Ludwig KU, Mangold E, Marazita ML, Feingold E, Zhurov A, Stergiakouli E, Sandy J, Richmond S, Weinberg SM, Hemani G, Lewis SJ
PLoS Genet 2018 Aug;14(8):e1007501. Epub 2018 Aug 1 doi: 10.1371/journal.pgen.1007501. PMID: 30067744Free PMC Article
Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate.
Raju GT, Lakkakula BVKS, Murthy J, Kannan MA, Paul SFD
Int J Pediatr Otorhinolaryngol 2017 Sep;100:14-17. Epub 2017 Jun 16 doi: 10.1016/j.ijporl.2017.06.015. PMID: 28802359

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