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Abnormality of the palpebral fissures

MedGen UID:
870308
Concept ID:
C4024750
Anatomical Abnormality
Synonyms: Abnormality of the opening between the eyelids; Deformity of the palpebral fissures; Malformation of the palpebral fissures
 
HPO: HP:0008050

Definition

An anomaly of the space between the medial and lateral canthi of the two open eyelids. [from HPO]

Conditions with this feature

Chromosome 15q13.3 microdeletion syndrome
MedGen UID:
393784
Concept ID:
C2677613
Congenital Abnormality
Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. A little over half of individuals diagnosed with this recurrent deletion have intellectual disability or developmental delay, mainly in the areas of speech acquisition and cognitive function. In the majority of individuals, cognitive impairment is mild. Other features reported in diagnosed individuals include epilepsy (in ~30%), mild hypotonia, and neuropsychiatric disorders (including autism spectrum disorder, attention-deficit/hyperactivity disorder, mood disorder, schizophrenia, and aggressive or self-injurious behavior). Congenital malformations are uncommon.

Professional guidelines

PubMed

Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010029. PMID: 38254920Free PMC Article
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

Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free 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
Olusanya AA, Aladelusi TO, Adedokun B
J Craniofac Surg 2018 Oct;29(7):1978-1982. doi: 10.1097/SCS.0000000000004831. PMID: 30106812
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article

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
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free 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
Toydemir RM, Bamshad MJ
Orphanet J Rare Dis 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. PMID: 19309503Free PMC Article
Mattina T, Perrotta CS, Grossfeld P
Orphanet J Rare Dis 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. PMID: 19267933Free PMC Article

Therapy

Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Gomez DA, May PA, Tabachnick BG, Hasken JM, Lyden ER, Kalberg WO, Hoyme HE, Manning MA, Adam MP, Robinson LK, Jones KL, Buckley D, Abdul-Rahman OA
Am J Med Genet A 2020 Oct;182(10):2243-2252. Epub 2020 Jul 17 doi: 10.1002/ajmg.a.61759. PMID: 32677343
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
Nolan ME
Pediatr Nurs 2003 Nov-Dec;29(6):427-30, 451. PMID: 14743837
Strömland K, Pinazo-Durán MD
Alcohol Alcohol 2002 Jan-Feb;37(1):2-8. doi: 10.1093/alcalc/37.1.2. PMID: 11825849

Prognosis

Johnson CM, Spruiell B, Wiesen C, Pimenta LA, Vann W, Frazier-Bowers SA
Orthod Craniofac Res 2019 May;22 Suppl 1:56-61. doi: 10.1111/ocr.12295. PMID: 31074139
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article
Sommer A, Bartholomew DW
Am J Med Genet A 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501. PMID: 14556253

Clinical prediction guides

Tsang TW, Finlay-Jones A, Perry K, Grigg JR, Popova S, Cheung MMY, Bower C, Tam P, Jamieson RV, Elliott EJ
Ophthalmic Epidemiol 2023 Aug;30(4):340-351. Epub 2022 Sep 14 doi: 10.1080/09286586.2022.2123004. PMID: 36102703
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A
Eur J Med Genet 2022 Nov;65(11):104624. Epub 2022 Sep 18 doi: 10.1016/j.ejmg.2022.104624. PMID: 36130690
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
Premalatha, Kannan VP; Madhu
J Indian Soc Pedod Prev Dent 2010 Oct-Dec;28(4):322-5. doi: 10.4103/0970-4388.76169. PMID: 21273726

Recent systematic reviews

Tsang TW, Finlay-Jones A, Perry K, Grigg JR, Popova S, Cheung MMY, Bower C, Tam P, Jamieson RV, Elliott EJ
Ophthalmic Epidemiol 2023 Aug;30(4):340-351. Epub 2022 Sep 14 doi: 10.1080/09286586.2022.2123004. PMID: 36102703
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449
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
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

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