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Congenital ptosis

MedGen UID:
78612
Concept ID:
C0266573
Congenital Abnormality
Synonym: Ptosis, congenital
SNOMED CT: Congenital ptosis of upper eyelid (268163008); Congenital ptosis (268163008)
 
HPO: HP:0007970

Definition

The drooping of the upper or lower eyelid that is present at the time of birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital ptosis
Follow this link to review classifications for Congenital ptosis in Orphanet.

Conditions with this feature

Jaw-winking syndrome
MedGen UID:
120582
Concept ID:
C0266521
Disease or Syndrome
The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked forms in infancy when the rapid spasmodic movements of the lid are apparent during sucking and thus are noted soon after birth (Doco-Fenzy et al., 2006).
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
MedGen UID:
338127
Concept ID:
C1850806
Disease or Syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
MedGen UID:
348108
Concept ID:
C1860464
Disease or Syndrome
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
Blepharoptosis-myopia-ectopia lentis syndrome
MedGen UID:
400006
Concept ID:
C1862259
Disease or Syndrome
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.
Ptosis, hereditary congenital, 1
MedGen UID:
357987
Concept ID:
C1867438
Disease or Syndrome
Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis. See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis.

Professional guidelines

PubMed

Bacharach J, Lee WW, Harrison AR, Freddo TF
Eye (Lond) 2021 Sep;35(9):2468-2481. Epub 2021 Apr 29 doi: 10.1038/s41433-021-01547-5. PMID: 33927356Free PMC Article
Stein A, Kelly JP, Weiss AH
J Pediatr 2014 Oct;165(4):820-4.e2. Epub 2014 Jul 30 doi: 10.1016/j.jpeds.2014.06.053. PMID: 25085522
Elçioğlu N, Elçioğlu M, Fuhrmann W
Genet Couns 1995;6(4):329-42. PMID: 8775420

Recent clinical studies

Etiology

Chen L, Li J, Zhang C, Li Y, Hou L, Ma J
Aesthetic Plast Surg 2023 Oct;47(5):1859-1869. Epub 2023 May 5 doi: 10.1007/s00266-023-03360-9. PMID: 37145320
Bai JS, Song MJ, Li BT, Tian R
Aesthetic Plast Surg 2023 Feb;47(1):226-234. Epub 2022 Sep 16 doi: 10.1007/s00266-022-03039-7. PMID: 36114384
Burnstine M, Greer C, Lee DK, Kim JW
Ophthalmic Plast Reconstr Surg 2019 Nov/Dec;35(6):525-534. doi: 10.1097/IOP.0000000000001405. PMID: 31498270
Gildener-Leapman JR, Sheps I, Stein R, Benyamini O, Milstein A, Hartstein ME
Ophthalmic Plast Reconstr Surg 2019 May/Jun;35(3):290-293. doi: 10.1097/IOP.0000000000001331. PMID: 30844915
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

Bai JS, Song MJ, Li BT, Tian R
Aesthetic Plast Surg 2023 Feb;47(1):226-234. Epub 2022 Sep 16 doi: 10.1007/s00266-022-03039-7. PMID: 36114384
Bacharach J, Lee WW, Harrison AR, Freddo TF
Eye (Lond) 2021 Sep;35(9):2468-2481. Epub 2021 Apr 29 doi: 10.1038/s41433-021-01547-5. PMID: 33927356Free PMC Article
Burnstine M, Greer C, Lee DK, Kim JW
Ophthalmic Plast Reconstr Surg 2019 Nov/Dec;35(6):525-534. doi: 10.1097/IOP.0000000000001405. PMID: 31498270
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
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

Chen L, Li J, Zhang C, Li Y, Hou L, Ma J
Aesthetic Plast Surg 2023 Oct;47(5):1859-1869. Epub 2023 May 5 doi: 10.1007/s00266-023-03360-9. PMID: 37145320
Hendricks TM, Griepentrog GJ, Hodge DO, Mohney BG
Br J Ophthalmol 2023 Jan;107(1):12-16. Epub 2021 Jul 19 doi: 10.1136/bjophthalmol-2021-319276. PMID: 34281901Free PMC Article
Landau Prat D, Ramakrishnan M, Zhao C, Revere K, Katowitz WR, Katowitz JA
Clin Exp Ophthalmol 2022 Aug;50(6):608-614. Epub 2022 Jun 14 doi: 10.1111/ceo.14112. PMID: 35610953
Salamah M, Eid AM, Albialy H, Sharaf El Deen S
Eur J Ophthalmol 2022 Jan;32(1):134-139. Epub 2021 Mar 25 doi: 10.1177/11206721211005320. PMID: 33765856
Wang Y, Xu Y, Liu X, Lou L, Ye J
Sci Rep 2018 May 29;8(1):8320. doi: 10.1038/s41598-018-26671-3. PMID: 29844360Free PMC Article

Prognosis

Akella SS, Srivatsan S, Kravets S, Setabutr P
Ophthalmic Plast Reconstr Surg 2023 Sep-Oct 01;39(5):465-469. Epub 2023 Mar 9 doi: 10.1097/IOP.0000000000002365. PMID: 36893062
Burnstine M, Greer C, Lee DK, Kim JW
Ophthalmic Plast Reconstr Surg 2019 Nov/Dec;35(6):525-534. doi: 10.1097/IOP.0000000000001405. PMID: 31498270
Gildener-Leapman JR, Sheps I, Stein R, Benyamini O, Milstein A, Hartstein ME
Ophthalmic Plast Reconstr Surg 2019 May/Jun;35(3):290-293. doi: 10.1097/IOP.0000000000001331. PMID: 30844915
Chisholm SAM, Costakos DM, Harris GJ
Ophthalmic Plast Reconstr Surg 2019 Jul/Aug;35(4):374-377. doi: 10.1097/IOP.0000000000001284. PMID: 30789542
Oral Y, Ozgur OR, Akcay L, Ozbas M, Dogan OK
J Pediatr Ophthalmol Strabismus 2010 Mar-Apr;47(2):101-4. Epub 2010 Mar 22 doi: 10.3928/01913913-20100308-08. PMID: 20349903

Clinical prediction guides

Shen J, Li H, Chen Y, Liu L, Cui H
Int Ophthalmol 2023 May;43(5):1581-1590. Epub 2022 Oct 21 doi: 10.1007/s10792-022-02557-2. PMID: 36269442
Snehi S, Kaur M, Singh AK, Thattarattody F, Raj S, Pandav SS, Kaushik S
Rom J Ophthalmol 2022 Apr-Jun;66(2):125-131. doi: 10.22336/rjo.2022.25. PMID: 35935082Free PMC Article
Liu Y, Chen T, Huang J, Li W, Chen Y, Huo L
BMC Ophthalmol 2022 Jul 2;22(1):291. doi: 10.1186/s12886-022-02511-x. PMID: 35780098Free PMC Article
Wu X, Zhang J, Ding X, Cao Y, Zhu X, Li R, Li L, Lin M, Li J
Ann Plast Surg 2021 Jul 1;87(1):49-53. doi: 10.1097/SAP.0000000000002677. PMID: 33538502
Gazzola R, Piozzi E, Vaienti L, Wilhelm Baruffaldi Preis F
Semin Ophthalmol 2018;33(4):454-460. Epub 2017 Mar 15 doi: 10.1080/08820538.2017.1297840. PMID: 28296517

Recent systematic reviews

Chen L, Li J, Zhang C, Li Y, Hou L, Ma J
Aesthetic Plast Surg 2023 Oct;47(5):1859-1869. Epub 2023 May 5 doi: 10.1007/s00266-023-03360-9. PMID: 37145320
Ortega-Evangelio L, Araújo-Miranda R, Raga-Cervera J, Romo López Á, Díaz-Céspedes RA, Peris-Martínez C
Arch Soc Esp Oftalmol (Engl Ed) 2022 Oct;97(10):572-582. Epub 2022 May 27 doi: 10.1016/j.oftale.2022.05.004. PMID: 35637109
Rosenberg JB, Andersen J, Barmettler A
Cochrane Database Syst Rev 2019 Apr 23;4(4):CD012725. doi: 10.1002/14651858.CD012725.pub2. PMID: 31013353Free PMC Article
Wang Y, Xu Y, Liu X, Lou L, Ye J
Sci Rep 2018 May 29;8(1):8320. doi: 10.1038/s41598-018-26671-3. PMID: 29844360Free PMC Article

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