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Cleft lip-retinopathy syndrome

MedGen UID:
419494
Concept ID:
C2931789
Disease or Syndrome
Synonyms: Ausems Wittebol-Post Hennekam syndrome; Cleft lip with progressive retinopathy
SNOMED CT: Cleft lip retinopathy syndrome (732247000); Ausems Wittebol Post Hennekam syndrome (732247000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0016051
Orphanet: ORPHA1995

Definition

An exceedingly rare association with characteristics of cleft lip and progressive retinopathy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft lip-retinopathy syndrome
Follow this link to review classifications for Cleft lip-retinopathy syndrome in Orphanet.

Professional guidelines

PubMed

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Batista KB, Thiruvenkatachari B, Harrison JE, O'Brien KD
Cochrane Database Syst Rev 2018 Mar 13;3(3):CD003452. doi: 10.1002/14651858.CD003452.pub4. PMID: 29534303Free PMC Article
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Charoenvicha C, Sirimaharaj W, Khwanngern K, Chattipakorn N, Chattipakorn SC
Int J Mol Sci 2022 Oct 22;23(21) doi: 10.3390/ijms232112727. PMID: 36361518Free PMC Article
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Reynolds K, Zhang S, Sun B, Garland MA, Ji Y, Zhou CJ
Birth Defects Res 2020 Nov;112(19):1588-1634. Epub 2020 Jul 15 doi: 10.1002/bdr2.1754. PMID: 32666711Free PMC Article
Kousa YA, Schutte BC
Dev Dyn 2016 Mar;245(3):220-32. Epub 2015 Sep 17 doi: 10.1002/dvdy.24341. PMID: 26332872Free PMC Article
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

Diagnosis

Chen J, Kanekar S
Clin Perinatol 2022 Sep;49(3):771-790. Epub 2022 Aug 22 doi: 10.1016/j.clp.2022.04.005. PMID: 36113934
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Saal HM
Facial Plast Surg Clin North Am 2016 Nov;24(4):405-425. doi: 10.1016/j.fsc.2016.06.001. PMID: 27712809
Lubinsky M, Kantaputra PN
Am J Med Genet A 2016 Oct;170(10):2611-6. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37763. PMID: 27250821
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Therapy

Yan CH, Jang SS, Lin HC, Ma Y, Khanwalkar AR, Thai A, Patel ZM
Int Forum Allergy Rhinol 2023 Jun;13(6):989-997. Epub 2022 Dec 21 doi: 10.1002/alr.23116. PMID: 36507615Free PMC Article
Baldo BA, Rose MA
Br J Anaesth 2020 Jan;124(1):44-62. Epub 2019 Oct 22 doi: 10.1016/j.bja.2019.08.010. PMID: 31653394
Raghavan U, Vijayadev V, Rao D, Ullas G
Facial Plast Surg 2018 Dec;34(6):605-611. Epub 2018 Dec 28 doi: 10.1055/s-0038-1676381. PMID: 30593076
Batista KB, Thiruvenkatachari B, Harrison JE, O'Brien KD
Cochrane Database Syst Rev 2018 Mar 13;3(3):CD003452. doi: 10.1002/14651858.CD003452.pub4. PMID: 29534303Free PMC Article
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article

Prognosis

Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Johnston DR, Watters K, Ferrari LR, Rahbar R
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):905-11. Epub 2014 Mar 27 doi: 10.1016/j.ijporl.2014.03.015. PMID: 24735606
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Clinical prediction guides

Sanchez MLN, Benjamin RH, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Lupo PJ, Agopian AJ
Cleft Palate Craniofac J 2022 Apr;59(4):417-426. Epub 2021 Apr 28 doi: 10.1177/10556656211010060. PMID: 33906455Free PMC Article
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

Recent systematic reviews

García-Ríos P, Pecci-Lloret MP, Oñate-Sánchez RE
Int J Environ Res Public Health 2022 Sep 21;19(19) doi: 10.3390/ijerph191911910. PMID: 36231212Free PMC Article
Yu AM, Choi YH, Tu MJ
Pharmacol Rev 2020 Oct;72(4):862-898. doi: 10.1124/pr.120.019554. PMID: 32929000Free PMC Article
Batista KB, Thiruvenkatachari B, Harrison JE, O'Brien KD
Cochrane Database Syst Rev 2018 Mar 13;3(3):CD003452. doi: 10.1002/14651858.CD003452.pub4. PMID: 29534303Free PMC Article
Duarte GA, Ramos RB, Cardoso MC
Braz J Otorhinolaryngol 2016 Sep-Oct;82(5):602-9. Epub 2016 Mar 2 doi: 10.1016/j.bjorl.2015.10.020. PMID: 26997574Free PMC Article
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article

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