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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.
See: Condition Record
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).
See: Condition Record
Faundes-Banka syndrome
Short tarsus-absence of lower eyelashes syndrome

Professional guidelines

PubMed

Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Kabuki syndrome: international consensus diagnostic criteria.
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
Conservative Management of Lower Eyelid Epiblepharon in Children.
Simon JW, Williams KH, Zobal-Ratner JL, Barry GP
J Pediatr Ophthalmol Strabismus 2017 Jan 1;54(1):15-16. Epub 2016 Aug 18 doi: 10.3928/01913913-20160810-02. PMID: 27537246

Recent clinical studies

Etiology

Kabuki syndrome: international consensus diagnostic criteria.
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
Repair of the Malpositioned Lower Lid.
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
Human facial dysostoses.
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Proboscis lateralis.
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
Amyopathic dermatomyositis.
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

Diagnosis

Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Kabuki syndrome: international consensus diagnostic criteria.
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
Repair of the Malpositioned Lower Lid.
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
Proboscis lateralis.
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
Unilateral microblepharon.
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

Eye symptoms in patients with benign thyroid diseases.
Sawicka-Gutaj N, Ziółkowska P, Wojciechowska K, Shawkat S, Czarnywojtek A, Warchoł W, Sowiński J, Szczepanek-Parulska E, Ruchała M
Sci Rep 2021 Sep 21;11(1):18706. doi: 10.1038/s41598-021-98232-0. PMID: 34548580Free PMC Article
Prospective trial of a 2940 nm Er:YAG laser for the treatment of meibomian gland dysfunction.
Fu Y, Xiang H, Hu R, Huang X, Lin L, Jin X
Graefes Arch Clin Exp Ophthalmol 2021 Aug;259(8):2269-2278. Epub 2021 Apr 24 doi: 10.1007/s00417-021-05170-8. PMID: 33893865
Observation of Influence of Cataract Surgery on the Ocular Surface.
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
Observations on Prostaglandin Orbitopathy.
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374
The aponeurotic approach for the correction of blepharoptosis.
Shovlin JP
Int Ophthalmol Clin 1997 Summer;37(3):133-50. doi: 10.1097/00004397-199703730-00010. PMID: 9279647

Prognosis

Sex Differences and Discordance Between Symptoms and Signs of Dry Eye Disease.
Lu PT, Lee CY, Sun CC
Am J Ophthalmol 2024 Apr;260:14-20. Epub 2023 Oct 14 doi: 10.1016/j.ajo.2023.10.008. PMID: 37844751
Phenotypic spectrum of Tessier facial cleft number 5.
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
Repair of the Malpositioned Lower Lid.
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
Proboscis lateralis.
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
Amyopathic dermatomyositis.
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

Sex Differences and Discordance Between Symptoms and Signs of Dry Eye Disease.
Lu PT, Lee CY, Sun CC
Am J Ophthalmol 2024 Apr;260:14-20. Epub 2023 Oct 14 doi: 10.1016/j.ajo.2023.10.008. PMID: 37844751
Neonatal diagnosis of circumferential skin creases.
Cauzzo C, Chiavaroli V, Palka Bayard de Volo C, Petrucci A, Topazio T, Di Donato G, Fiorentino R, Chiarelli F, Di Valerio S
Birth Defects Res 2023 Jul 1;115(12):1169-1173. Epub 2023 May 24 doi: 10.1002/bdr2.2187. PMID: 37222187
Should we care about the ocular surface in the anophthalmic patient?
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
Evidence-Based Medicine: A Graded Approach to Lower Lid Blepharoplasty.
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
Observations on Prostaglandin Orbitopathy.
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374

Recent systematic reviews

An Overview of Surgical Approaches for Lower Eyelid Blepharoplasty.
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
Prevalence of Obstructive Sleep Apnea With Floppy Eyelid Syndrome: A Systematic Review and Meta-analysis.
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
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
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
Autologous Blood for Conjunctival Autograft Fixation in Primary Pterygium Surgery: A Systematic Review and Meta-analysis.
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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