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Abnormal eyelid morphology

MedGen UID:
867429
Concept ID:
C4021803
Anatomical Abnormality
Synonym: Abnormality of the eyelid
 
HPO: HP:0000492

Definition

An abnormality of the eyelids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal eyelid morphology

Conditions with this feature

Levator-medial rectus synkinesis
MedGen UID:
320592
Concept ID:
C1835403
Disease or Syndrome
Oculomotor-levator synkinesis (OCLEVS) is characterized by abnormal eyelid elevation or retraction during ipsilateral adduction. The disorder most likely results from aberrant innervation of extraocular muscles by the oculomotor nerve (cranial nerve III). Normally, the levator muscle is served by the superior branch of CN3 and the medial rectus muscle is served by the inferior branch of CN3. The clinical features suggest synkinesis between the medial rectus and levator muscle branches. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD) and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see 135700) (summary by Pang et al., 1986 and Khan et al., 2004) See also oculomotor-abducens synkinesis (OCABSN; 619215), caused by mutation in the ACKR3 gene (610376) on chromosome 2q37.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).

Professional guidelines

PubMed

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
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
Damasceno RW, Avgitidou G, Belfort R Jr, Dantas PE, Holbach LM, Heindl LM
Arq Bras Oftalmol 2015 Sep-Oct;78(5):328-31. doi: 10.5935/0004-2749.20150087. PMID: 26466237

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
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
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

Dewan T, Sharma C, Chawla H, Singhania R, Chatterjee A
Digit J Ophthalmol 2017;23(1):16-17. Epub 2017 Feb 13 doi: 10.5693/djo.01.2014.02.003. PMID: 28924414Free PMC Article
De Sanctis U, Alovisi C, Actis AG, Vinai L, Penna R, Fea A, Actis G, Grignolo F
Minerva Chir 2013 Dec;68(6 Suppl 1):37-47. PMID: 24172762
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
Maman DY, Taub PJ
Ann Plast Surg 2011 Apr;66(4):351-3. doi: 10.1097/SAP.0b013e3181e56e69. PMID: 21301313
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
Looi K, Evans DJ, Garratt LW, Ang S, Hillas JK, Kicic A, Simpson SJ
Paediatr Respir Rev 2019 Aug;31:82-88. Epub 2018 Dec 1 doi: 10.1016/j.prrv.2018.11.003. PMID: 31103368
Efron N, Brennan NA, Morgan PB, Wilson T
Prog Retin Eye Res 2016 Jul;53:140-174. Epub 2016 Apr 14 doi: 10.1016/j.preteyeres.2016.04.004. PMID: 27094372
Li J, Tripathi RC, Tripathi BJ
Drug Saf 2008;31(2):127-41. doi: 10.2165/00002018-200831020-00003. PMID: 18217789
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
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
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
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
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

Di Zazzo A, Cutrupi F, De Antoniis MG, Ricci M, Esposito G, Antonini M, Coassin M, Micera A, Perrella E, Bonini S
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):17. doi: 10.1167/iovs.64.15.17. PMID: 38095906Free PMC Article
Ma J, Rubin BK, Voynow JA
Chest 2018 Jul;154(1):169-176. Epub 2017 Nov 21 doi: 10.1016/j.chest.2017.11.008. PMID: 29170036
Efron N, Brennan NA, Morgan PB, Wilson T
Prog Retin Eye Res 2016 Jul;53:140-174. Epub 2016 Apr 14 doi: 10.1016/j.preteyeres.2016.04.004. PMID: 27094372
Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
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

Zaidman M, Novak CB, Borschel GH, Joachim K, Zuker RM
J Plast Reconstr Aesthet Surg 2021 Jul;74(7):1436-1445. Epub 2021 Mar 30 doi: 10.1016/j.bjps.2021.03.059. PMID: 33952434
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
Lan A, Xiao F, Wang Y, Luo Z, Cao Q
Oncotarget 2017 Jun 20;8(25):41487-41497. doi: 10.18632/oncotarget.17195. PMID: 28489563Free PMC Article
Desai SC, Walen S, Holds JB, Branham G
Am J Otolaryngol 2013 May-Jun;34(3):223-9. Epub 2013 Feb 4 doi: 10.1016/j.amjoto.2013.01.004. PMID: 23380310
Lindsley K, Matsumura S, Hatef E, Akpek EK
Cochrane Database Syst Rev 2012 May 16;2012(5):CD005556. doi: 10.1002/14651858.CD005556.pub2. PMID: 22592706Free PMC Article

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