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Symblepharon

MedGen UID:
509041
Concept ID:
C0152454
Pathologic Function
Synonyms: Atretoblepharia; congenital symblepharon; Congenital symblepharon; Eyelid adhesion to globe of eye; Eyelid stuck to eyeball; Pathological lid adhesions
SNOMED CT: Pathological lid adhesions (90216006); Symblepharon (90216006); Atretoblepharia (90216006)
 
HPO: HP:0430007
Monarch Initiative: MONDO:0020359
Orphanet: ORPHA98948

Definition

A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. [from HPO]

Term Hierarchy

Conditions with this feature

Kindler syndrome
MedGen UID:
96060
Concept ID:
C0406557
Disease or Syndrome
Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.
Laryngo-onycho-cutaneous syndrome
MedGen UID:
272227
Concept ID:
C1328355
Disease or Syndrome
Junctional epidermolysis bullosa 2C (JEB2C), also known as laryngoonychocutaneous syndrome (LOCS), is an autosomal recessive disorder characterized by skin erosions, nail dystrophy, dental anomalies, and excessive vascular granulation tissue of the conjunctiva and larynx. Onset is characterized by a hoarse cry soon after birth. Beginning in infancy, chronic skin ulcers and conjunctival lesions appear. Patients may die in childhood secondary to acute or chronic respiratory obstruction. Long-term survivors have visual loss and often require tracheostomy (McLean et al., 2003). For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650). Reviews Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.
Camptodactyly syndrome, Guadalajara type 3
MedGen UID:
394371
Concept ID:
C2677809
Disease or Syndrome
A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age.
Warburg-cinotti syndrome
MedGen UID:
1677486
Concept ID:
C5193019
Disease or Syndrome
Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).

Professional guidelines

PubMed

Andole S, Senthil S
Semin Ophthalmol 2023 Feb;38(2):158-166. Epub 2022 Aug 1 doi: 10.1080/08820538.2022.2094714. PMID: 35915557
Das D, Modaboyina S, Raj S, Agrawal S, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2559-2563. doi: 10.4103/ijo.IJO_2627_21. PMID: 35791156Free PMC Article
Hansen MS, Klefter ON, Julian HO, Lynge Pedersen AM, Heegaard S
Oral Dis 2017 Oct;23(7):849-853. Epub 2016 Nov 17 doi: 10.1111/odi.12590. PMID: 27717107

Recent clinical studies

Etiology

Kurzeja M, Olszewska M, Grzybowski A, Rudnicka L
Clin Dermatol 2023 Jul-Aug;41(4):481-490. Epub 2023 Aug 14 doi: 10.1016/j.clindermatol.2023.08.007. PMID: 37586570
Zhu YF, Qiu WY, Xu YS, Yao YF
BMC Ophthalmol 2023 Apr 7;23(1):145. doi: 10.1186/s12886-023-02879-4. PMID: 37029360Free PMC Article
Venugopal A, Ravindran M
Indian J Ophthalmol 2022 Oct;70(10):3745. doi: 10.4103/ijo.IJO_515_22. PMID: 36190104Free PMC Article
Clare G, Bunce C, Tuft S
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD009379. doi: 10.1002/14651858.CD009379.pub3. PMID: 36047788Free PMC Article
Bunker DJ, George RJ, Kleinschmidt A, Kumar RJ, Maitz P
J Burn Care Res 2014 May-Jun;35(3):261-8. doi: 10.1097/BCR.0b013e31829b0037. PMID: 23877138

Diagnosis

Kurzeja M, Olszewska M, Grzybowski A, Rudnicka L
Clin Dermatol 2023 Jul-Aug;41(4):481-490. Epub 2023 Aug 14 doi: 10.1016/j.clindermatol.2023.08.007. PMID: 37586570
Andole S, Senthil S
Semin Ophthalmol 2023 Feb;38(2):158-166. Epub 2022 Aug 1 doi: 10.1080/08820538.2022.2094714. PMID: 35915557
Stan C, Diaconu E, Hopirca L, Petra N, Rednic A, Stan C
Rom J Ophthalmol 2020 Apr-Jun;64(2):226-230. PMID: 32685792Free PMC Article
Hansen MS, Klefter ON, Julian HO, Lynge Pedersen AM, Heegaard S
Oral Dis 2017 Oct;23(7):849-853. Epub 2016 Nov 17 doi: 10.1111/odi.12590. PMID: 27717107
Holsclaw DS
Int Ophthalmol Clin 1998 Fall;38(4):89-106. doi: 10.1097/00004397-199803840-00009. PMID: 10200078

Therapy

Clare G, Bunce C, Tuft S
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD009379. doi: 10.1002/14651858.CD009379.pub3. PMID: 36047788Free PMC Article
Mohebbi M, Mirghorbani M, Banafshe Afshan A, Towfighi M
Ocul Immunol Inflamm 2019;27(6):987-994. Epub 2018 Jul 9 doi: 10.1080/09273948.2018.1485955. PMID: 29985678
Hansen MS, Klefter ON, Julian HO, Lynge Pedersen AM, Heegaard S
Oral Dis 2017 Oct;23(7):849-853. Epub 2016 Nov 17 doi: 10.1111/odi.12590. PMID: 27717107
Holsclaw DS
Int Ophthalmol Clin 1998 Fall;38(4):89-106. doi: 10.1097/00004397-199803840-00009. PMID: 10200078
Mondino BJ
Ophthalmology 1990 Jul;97(7):939-52. doi: 10.1016/s0161-6420(90)32479-x. PMID: 2199891

Prognosis

Sharma S, Kate A, Donthineni PR, Basu S, Shanbhag SS
Indian J Ophthalmol 2022 Sep;70(9):3203-3212. doi: 10.4103/ijo.IJO_3148_21. PMID: 36018089Free PMC Article
Maharana PK, Sahay P, Mandal S, Nagpal R, Sharma N
Indian J Ophthalmol 2022 Jul;70(7):2585-2587. doi: 10.4103/ijo.IJO_791_22. PMID: 35791162Free PMC Article
Komai S, Inatomi T, Nakamura T, Ueta M, Horiguchi G, Teramukai S, Kimura Y, Kagimura T, Fukushima M, Kinoshita S, Sotozono C
Br J Ophthalmol 2022 Oct;106(10):1355-1362. Epub 2021 May 18 doi: 10.1136/bjophthalmol-2020-318547. PMID: 34006509Free PMC Article
Verity DH, Collin JR
Curr Opin Otolaryngol Head Neck Surg 2004 Aug;12(4):344-8. doi: 10.1097/01.moo.0000130577.04818.1c. PMID: 15252259
Holsclaw DS
Int Ophthalmol Clin 1998 Fall;38(4):89-106. doi: 10.1097/00004397-199803840-00009. PMID: 10200078

Clinical prediction guides

Ucar F
Cornea 2023 Oct 1;42(10):1206-1210. Epub 2022 Sep 28 doi: 10.1097/ICO.0000000000003117. PMID: 36731062
Komai S, Inatomi T, Nakamura T, Ueta M, Horiguchi G, Teramukai S, Kimura Y, Kagimura T, Fukushima M, Kinoshita S, Sotozono C
Br J Ophthalmol 2022 Oct;106(10):1355-1362. Epub 2021 May 18 doi: 10.1136/bjophthalmol-2020-318547. PMID: 34006509Free PMC Article
Zhao L, Jia Y, Zhao C, Li H, Wang F, Dong M, Liu T, Zhang S, Zhou Q, Shi W
Acta Biomater 2020 Jan 1;101:344-356. Epub 2019 Nov 6 doi: 10.1016/j.actbio.2019.11.006. PMID: 31706041
Ong HS, Minassian D, Rauz S, Mehta JS, Dart JK
Ocul Surf 2020 Jan;18(1):121-129. Epub 2019 Nov 3 doi: 10.1016/j.jtos.2019.10.010. PMID: 31693934
Lee BWH, Tan JCK, Radjenovic M, Coroneo MT, Murrell DF
Orphanet J Rare Dis 2018 May 22;13(1):83. doi: 10.1186/s13023-018-0823-5. PMID: 29789014Free PMC Article

Recent systematic reviews

Clare G, Bunce C, Tuft S
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD009379. doi: 10.1002/14651858.CD009379.pub3. PMID: 36047788Free PMC Article

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