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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; 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)
 
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

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
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
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
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

Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1.
Mallone F, Alisi L, Lucchino L, Di Martino V, Nebbioso M, Armentano M, Lambiase A, Moramarco A
Int J Mol Sci 2023 Aug 30;24(17) doi: 10.3390/ijms241713481. PMID: 37686284Free 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
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
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

Ocular manifestations, complications and management of congenital ichthyoses: a new look.
Malhotra R, Hernández-Martın A, Oji V
Br J Ophthalmol 2018 May;102(5):586-592. Epub 2017 Nov 3 doi: 10.1136/bjophthalmol-2017-310615. PMID: 29101124
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

Clinical Profile and Long-Term Outcomes in Pediatric Cavernous Sinus Thrombosis.
Karakas C, Hajiyev Y, Skrehot HC, Kralik SF, Lambert EM, Pehlivan D
Pediatr Neurol 2022 May;130:28-40. Epub 2022 Mar 4 doi: 10.1016/j.pediatrneurol.2022.02.006. PMID: 35306302
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
Eyelid and fornix reconstruction in abortive cryptophthalmos: a single-center experience over 12 years.
Ding J, Hou Z, Li Y, Lu N, Li D
Eye (Lond) 2017 Nov;31(11):1576-1581. Epub 2017 Jun 16 doi: 10.1038/eye.2017.94. PMID: 28622309Free 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
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
Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
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

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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