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Hypoplasia of eyelid

MedGen UID:
576313
Concept ID:
C0344499
Congenital Abnormality; Disease or Syndrome
Synonyms: Decreased size of eyelid; Hypoplasia of the eyelid; Hypoplastic eyelid; Short eyelid; Small eyelid; Underdevelopment of eyelid
SNOMED CT: Hypoplasia of eyelid (204203001)
 
HPO: HP:0430009

Definition

Developmental hypoplasia of the eyelid. [from HPO]

Conditions with this feature

Ablepharon macrostomia syndrome
MedGen UID:
395439
Concept ID:
C1860224
Disease or Syndrome
Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
MedGen UID:
1784590
Concept ID:
C5543375
Disease or Syndrome
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018).

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
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Tiemstra JD, Khatkhate N
Am Fam Physician 2007 Oct 1;76(7):997-1002. PMID: 17956069

Recent clinical studies

Etiology

Millett M, Hyasat JG, Lueder GT
Ophthalmic Genet 2023 Aug;44(4):401-402. Epub 2023 Jan 13 doi: 10.1080/13816810.2022.2127151. PMID: 36636984
Shah R, Amador C, Chun ST, Ghiam S, Saghizadeh M, Kramerov AA, Ljubimov AV
Prog Retin Eye Res 2023 Jul;95:101149. Epub 2022 Nov 25 doi: 10.1016/j.preteyeres.2022.101149. PMID: 36443219Free PMC Article
He S, Wu Z
Ophthalmic Res 2022;65(5):481-492. Epub 2022 Apr 11 doi: 10.1159/000523878. PMID: 35405677
Agarwal R, Nagpal R, Todi V, Sharma N
Surv Ophthalmol 2021 Jan-Feb;66(1):2-19. Epub 2020 Oct 13 doi: 10.1016/j.survophthal.2020.10.004. PMID: 33058926
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861

Diagnosis

He S, Wu Z
Ophthalmic Res 2022;65(5):481-492. Epub 2022 Apr 11 doi: 10.1159/000523878. PMID: 35405677
Agarwal R, Nagpal R, Todi V, Sharma N
Surv Ophthalmol 2021 Jan-Feb;66(1):2-19. Epub 2020 Oct 13 doi: 10.1016/j.survophthal.2020.10.004. PMID: 33058926
Dutton JJ
Ophthalmic Plast Reconstr Surg 2018 Jul/Aug;34(4S Suppl 1):S7-S12. doi: 10.1097/IOP.0000000000001122. PMID: 29870437
Fea A, Turco D, Actis AG, De Sanctis U, Actis G, Grignolo FM
Minerva Chir 2013 Dec;68(6 Suppl 1):27-35. PMID: 24172761
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861

Therapy

Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
Odat TA, Odat HA, Khraisat H, Odat MA, Alzoubi FQ
Int Ophthalmol 2015 Jun;35(3):375-9. Epub 2014 Jun 7 doi: 10.1007/s10792-014-9957-1. PMID: 24906865
Tiemstra JD, Khatkhate N
Am Fam Physician 2007 Oct 1;76(7):997-1002. PMID: 17956069
Crist WM, Anderson JR, Meza JL, Fryer C, Raney RB, Ruymann FB, Breneman J, Qualman SJ, Wiener E, Wharam M, Lobe T, Webber B, Maurer HM, Donaldson SS
J Clin Oncol 2001 Jun 15;19(12):3091-102. doi: 10.1200/JCO.2001.19.12.3091. PMID: 11408506

Prognosis

He S, Wu Z
Ophthalmic Res 2022;65(5):481-492. Epub 2022 Apr 11 doi: 10.1159/000523878. PMID: 35405677
Szabo B, Crişan D, Tompa I, Szabo I
Rom J Morphol Embryol 2011;52(3 Suppl):1139-42. PMID: 22119838
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Tiemstra JD, Khatkhate N
Am Fam Physician 2007 Oct 1;76(7):997-1002. PMID: 17956069
Crist WM, Anderson JR, Meza JL, Fryer C, Raney RB, Ruymann FB, Breneman J, Qualman SJ, Wiener E, Wharam M, Lobe T, Webber B, Maurer HM, Donaldson SS
J Clin Oncol 2001 Jun 15;19(12):3091-102. doi: 10.1200/JCO.2001.19.12.3091. PMID: 11408506

Clinical prediction guides

Mooss VS, Kavitha V, Ravishankar HN, Heralgi MM, Aafreen S
Indian J Ophthalmol 2022 Oct;70(10):3618-3624. doi: 10.4103/ijo.IJO_776_22. PMID: 36190058Free PMC Article
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L
Genes (Basel) 2021 Dec 23;13(1) doi: 10.3390/genes13010029. PMID: 35052370Free PMC Article
Odze R
Dig Dis Sci 2018 Aug;63(8):2042-2051. doi: 10.1007/s10620-018-5151-z. PMID: 29998421
Lee SH, Kim HJ, Kim JS
J Neuroophthalmol 2018 Sep;38(3):393-412. doi: 10.1097/WNO.0000000000000583. PMID: 29099407
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

Galor A, Britten-Jones AC, Feng Y, Ferrari G, Goldblum D, Gupta PK, Merayo-Lloves J, Na KS, Naroo SA, Nichols KK, Rocha EM, Tong L, Wang MTM, Craig JP
Ocul Surf 2023 Apr;28:262-303. Epub 2023 Apr 11 doi: 10.1016/j.jtos.2023.04.008. PMID: 37054911
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
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA
J Eur Acad Dermatol Venereol 2022 Apr;36(4):536-546. Epub 2021 Dec 31 doi: 10.1111/jdv.17877. PMID: 34919300
Khine KT, Shi DS, Bernhisel A, Gertsch KR, Mamalis N, Patel BCK, Dutton JJ
Ophthalmic Plast Reconstr Surg 2018 Mar/Apr;34(2):101-105. doi: 10.1097/IOP.0000000000000936. PMID: 28430707
Burton M, Habtamu E, Ho D, Gower EW
Cochrane Database Syst Rev 2015 Nov 13;2015(11):CD004008. doi: 10.1002/14651858.CD004008.pub3. PMID: 26568232Free PMC Article

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