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Rare eyelid malformation

MedGen UID:
120584
•Concept ID:
C0266572
•
Congenital Abnormality
Synonyms: Congenital abnormality of eyelid; Congenital anomaly of eyelid; Congenital eyelid deformity; Congenital Eyelid Malformation; Congenital malformation of eyelid; Congenital malformation of the eyelid; Congenital structural abnormality of eyelid; Developmental anomaly of eyelid
SNOMED CT: Congenital abnormality of eyelid (91158006); Congenital eyelid deformity (91158006); Congenital malformation of eyelid (91158006); Congenital anomaly of eyelid (91158006); Developmental anomaly of eyelid (91158006); Congenital structural abnormality of eyelid (91158006)
 
Orphanet: ORPHA98561

Definition

The abnormal formation of the eyelid that is present at the time of birth. [from NCI]

Professional guidelines

PubMed

Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
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
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
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.
Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423

Recent clinical studies

Etiology

Descemetocele.
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
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
Kabuki syndrome: a review.
Adam MP, Hudgins L
Clin Genet 2005 Mar;67(3):209-19. doi: 10.1111/j.1399-0004.2004.00348.x. PMID: 15691356
Ptosis: causes, presentation, and management.
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

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
Descemetocele.
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
Ectropion.
Bedran EG, Pereira MV, Bernardes TF
Semin Ophthalmol 2010 May;25(3):59-65. doi: 10.3109/08820538.2010.488570. PMID: 20590414
Fraser syndrome.
Kalpana Kumari MK, Kamath S, Mysorekar VV, Nandini G
Indian J Pathol Microbiol 2008 Apr-Jun;51(2):228-9. doi: 10.4103/0377-4929.41664. PMID: 18603689
Ptosis: causes, presentation, and management.
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

Multidisciplinary management of ankyloblepharon filiforme adnatum.
Armes H, Williams SA, Dunne J, Eccles SJ
BMJ Case Rep 2020 Jul 1;13(7) doi: 10.1136/bcr-2020-234249. PMID: 32611653Free PMC Article
Horner's syndrome and epidural anesthesia in labor and cesarean section.
Vogiatzaki T, Tsikouras P, Tsoleridis T, Bachar M, Christofis C, Liberis A, Galazios G
Clin Exp Obstet Gynecol 2017;44(3):337-340. PMID: 29949268
Interventions for trachoma trichiasis.
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
The spectrum of oculocutaneous disease: Part II. Neoplastic and drug-related causes of oculocutaneous disease.
Day A, Abramson AK, Patel M, Warren RB, Menter MA
J Am Acad Dermatol 2014 May;70(5):821.e1-19. doi: 10.1016/j.jaad.2013.12.019. PMID: 24742849
Endogenous ochronosis.
Turgay E, Canat D, Gurel MS, Yuksel T, Baran MF, Demirkesen C
Clin Exp Dermatol 2009 Dec;34(8):e865-8. doi: 10.1111/j.1365-2230.2009.03618.x. PMID: 20055850

Prognosis

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
Nasopalpebral lipoma coloboma syndrome.
Babu NS, Raviprakash D, Kumar R
Indian J Ophthalmol 2011 Sep-Oct;59(5):379-80. doi: 10.4103/0301-4738.83615. PMID: 21836344Free PMC Article
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
Encephalocraniocutaneous lipomatosis.
Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260

Clinical prediction guides

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
Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I.
Moramarco A, Mallone F, Sacchetti M, Lucchino L, Miraglia E, Roberti V, Lambiase A, Giustini S
Orphanet J Rare Dis 2021 Mar 23;16(1):147. doi: 10.1186/s13023-021-01773-w. PMID: 33757576Free PMC Article
Horner's syndrome and epidural anesthesia in labor and cesarean section.
Vogiatzaki T, Tsikouras P, Tsoleridis T, Bachar M, Christofis C, Liberis A, Galazios G
Clin Exp Obstet Gynecol 2017;44(3):337-340. PMID: 29949268
Elejalde syndrome (ES).
Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
Treatment strategy in Goldenhar syndrome.
Bogusiak K, Arkuszewski P, Skorek-Stachnik K, Kozakiewicz M
J Craniofac Surg 2014 Jan;25(1):177-83. doi: 10.1097/SCS.0000000000000387. PMID: 24406574

Recent systematic reviews

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
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.
Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423
Interventions for trachoma trichiasis.
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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