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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

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
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

Etiology

Leslie EJ
Oral Dis 2022 Jul;28(5):1327-1338. Epub 2022 Jan 6 doi: 10.1111/odi.14109. PMID: 34923716
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
Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M
J Med Genet 2018 Jul;55(7):449-458. Epub 2018 Mar 2 doi: 10.1136/jmedgenet-2017-105110. PMID: 29500247
Dixon MJ, Marazita ML, Beaty TH, Murray JC
Nat Rev Genet 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933. PMID: 21331089Free PMC Article
Kaufman FL
Pediatr Clin North Am 1991 Oct;38(5):1127-47. doi: 10.1016/s0031-3955(16)38191-3. PMID: 1886739

Diagnosis

Lawson C, Blakemore KJ, Ryan R, Hooper JE, Tsimis M, Jelin A
Am J Med Genet A 2020 Jul;182(7):1812-1814. Epub 2020 May 22 doi: 10.1002/ajmg.a.61624. PMID: 32441374Free PMC Article
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
Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M
J Med Genet 2018 Jul;55(7):449-458. Epub 2018 Mar 2 doi: 10.1136/jmedgenet-2017-105110. PMID: 29500247
Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ
Am J Med Genet A 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896. PMID: 25691407Free PMC Article
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

Therapy

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
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
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
Lieff S, Olshan AF, Werler M, Savitz DA, Mitchell AA
Epidemiology 1999 May;10(3):238-41. PMID: 10230831

Prognosis

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
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
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
Tunçbilek G, Alanay Y, Kayikçioğlu A
J Craniofac Surg 2009 Jul;20(4):1056-8. doi: 10.1097/scs.0b013e3181abb29f. PMID: 19634215
Houdayer C, Bahuau M
Ann Genet 1998;41(2):89-117. PMID: 9706339

Clinical prediction guides

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
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
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
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
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

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