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Hypoplasia of the lower eyelids

MedGen UID:
870370
Concept ID:
C4024814
Finding
Synonym: Lower eyelid hypoplasia
 
HPO: HP:0007697

Definition

Underdevelopment of the lower eyelid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the lower eyelids

Conditions with this feature

Short tarsus-absence of lower eyelashes syndrome
MedGen UID:
325001
Concept ID:
C1838328
Disease or Syndrome
A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant.
Faundes-Banka syndrome
MedGen UID:
1782083
Concept ID:
C5543554
Disease or Syndrome
Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).

Professional guidelines

PubMed

Sahan B, Ciftci F
Eur J Ophthalmol 2022 May;32(3):1464-1468. Epub 2021 May 31 doi: 10.1177/11206721211020646. PMID: 34058898
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738

Recent clinical studies

Etiology

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Chan D, Sokoya M, Ducic Y
Facial Plast Surg 2017 Dec;33(6):598-605. Epub 2017 Dec 1 doi: 10.1055/s-0037-1608711. PMID: 29195240
Marcet MM, Phelps PO, Lai JS
Curr Opin Ophthalmol 2015 Jul;26(5):416-21. doi: 10.1097/ICU.0000000000000186. PMID: 26154839
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859

Diagnosis

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board
J Med Genet 2019 Feb;56(2):89-95. Epub 2018 Dec 4 doi: 10.1136/jmedgenet-2018-105625. PMID: 30514738
Chan D, Sokoya M, Ducic Y
Facial Plast Surg 2017 Dec;33(6):598-605. Epub 2017 Dec 1 doi: 10.1055/s-0037-1608711. PMID: 29195240
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859
Bernardini FP, Kersten RC, de Conciliis C, Devoto MH
Ophthalmic Plast Reconstr Surg 2004 Nov;20(6):467-9. doi: 10.1097/01.iop.0000144788.17878.04. PMID: 15599251

Therapy

Armes H, Williams SA, Dunne J, Eccles SJ
BMJ Case Rep 2020 Jul 1;13(7) doi: 10.1136/bcr-2020-234249. PMID: 32611653Free PMC Article
Glasgold R, Rogal J, Rabach LA, Glasgold M
Facial Plast Surg 2018 Aug;34(4):412-418. Epub 2018 Jun 28 doi: 10.1055/s-0038-1666787. PMID: 29954022
Park Y, Hwang HB, Kim HS
PLoS One 2016;11(10):e0152460. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0152460. PMID: 27695117Free PMC Article
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374
Shovlin JP
Int Ophthalmol Clin 1997 Summer;37(3):133-50. doi: 10.1097/00004397-199703730-00010. PMID: 9279647

Prognosis

Chauvel-Picard J, Allavena J, Beuriat PA, Di Rocco F, Gleizal A, Paulus C
J Stomatol Oral Maxillofac Surg 2022 Sep;123(4):448-451. Epub 2021 Oct 11 doi: 10.1016/j.jormas.2021.10.003. PMID: 34649014
Racz C, Dakpé S, Kadlub N, Testelin S, Devauchelle B, Rachwalski M, Picard A
J Craniomaxillofac Surg 2018 Jan;46(1):22-27. Epub 2017 Oct 27 doi: 10.1016/j.jcms.2017.10.012. PMID: 29239768
Chan D, Sokoya M, Ducic Y
Facial Plast Surg 2017 Dec;33(6):598-605. Epub 2017 Dec 1 doi: 10.1055/s-0037-1608711. PMID: 29195240
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859
Saoud B, Allali F, Hassouni NH
Joint Bone Spine 2006 May;73(3):318-20. Epub 2005 Sep 16 doi: 10.1016/j.jbspin.2005.05.004. PMID: 16253536

Clinical prediction guides

Volpe G, De Piano M, Mazzone G, Micera A, Bonini S, Modugno AC
Eur J Ophthalmol 2022 Jul;32(4):1924-1933. Epub 2021 Oct 7 doi: 10.1177/11206721211048803. PMID: 34617482
Isoldi S, Mallardo S, Marcellino A, Bloise S, Dilillo A, Iorfida D, Testa A, Del Giudice E, Martucci V, Sanseviero M, Barberi A, Raponi M, Ventriglia F, Lubrano R
J Med Virol 2021 May;93(5):3122-3132. Epub 2021 Feb 16 doi: 10.1002/jmv.26871. PMID: 33570199Free PMC Article
Hashem AM, Couto RA, Waltzman JT, Drake RL, Zins JE
Plast Reconstr Surg 2017 Jan;139(1):139e-150e. doi: 10.1097/PRS.0000000000002849. PMID: 28027251
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374
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

Recent systematic reviews

Aljahdali F, Khayyat W, BinYamin AT, Al-Qahtani SA, Alghamdi MD, Alsudais AS, Alalgum HA, Bin Helayel H, AlMutlak M
BMJ Open Ophthalmol 2024 Apr 1;9(1) doi: 10.1136/bmjophth-2023-001621. PMID: 38565231Free PMC Article
Nahai F, Niazi F, Nahai F, Niazi S, Foster JA, Doroodgar F, Baradaran-Rafii A, Rashidi V
Aesthet Surg J 2023 Nov 16;43(12):1429-1440. doi: 10.1093/asj/sjad245. PMID: 37531619
Bulloch G, Seth I, Alphonse S, Sathe A, Jennings M, Sultan D, Rahmeh R, McNab AA
Ophthalmic Plast Reconstr Surg 2023 May-Jun 01;39(3):243-253. Epub 2022 Oct 28 doi: 10.1097/IOP.0000000000002298. PMID: 36700854
Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A
Eur J Med Genet 2021 Jun;64(6):104210. Epub 2021 Mar 30 doi: 10.1016/j.ejmg.2021.104210. PMID: 33794347
Zein H, Ismail A, Abdelmongy M, Elsherif S, Hassanen A, Muhammad B, Assaf F, Elsehili A, Negida A, Yamane S, Abdel-Daim MM, Kadonosono K
Curr Pharm Des 2018;24(35):4197-4204. doi: 10.2174/1381612824666181001161352. PMID: 30277146

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