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Ankyloblepharon

MedGen UID:
83282
Concept ID:
C0339182
Anatomical Abnormality
Synonyms: Adhesion of eyelids; Ankyloblepharon filiforme adnatum; Eyelid synechiae; Eyelids stuck together; Fused eyelid
SNOMED CT: Ankyloblepharon (193953008)
 
HPO: HP:0009755

Definition

Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. [from HPO]

Term Hierarchy

Conditions with this feature

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MedGen UID:
98032
Concept ID:
C0406709
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Curly hair, ankyloblepharon, nail dysplasia syndrome
MedGen UID:
98035
Concept ID:
C0406733
Disease or Syndrome
CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017).
Bartsocas-Papas syndrome 1
MedGen UID:
337894
Concept ID:
C1849718
Disease or Syndrome
Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).
Isolated cryptophthalmia
MedGen UID:
342242
Concept ID:
C1852453
Disease or Syndrome
Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form (summary by Egier et al., 2005).
Ankyloblepharon filiforme adnatum-cleft palate syndrome
MedGen UID:
400148
Concept ID:
C1862866
Congenital Abnormality
A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal.
Endocrine-cerebro-osteodysplasia syndrome
MedGen UID:
390740
Concept ID:
C2675227
Disease or Syndrome
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
Gollop syndrome
MedGen UID:
444125
Concept ID:
C2931720
Disease or Syndrome
The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissures, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).
Bartsocas-Papas syndrome 2
MedGen UID:
1778443
Concept ID:
C5543445
Disease or Syndrome
Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015).
Isolated microphthalmia 3
MedGen UID:
1823955
Concept ID:
C5774181
Disease or Syndrome
Syndromic microphthalmia-16 (MCOPS16) is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland. Some patients exhibit developmental delay and intellectual disability or autism (Voronina et al., 2004; Abouzeid et al., 2012; Chassaing et al., 2014; Brachet et al., 2019). For discussion of the genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800).
Autosomal dominant popliteal pterygium syndrome
MedGen UID:
979785
Concept ID:
CN296406
Disease or Syndrome
Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical.

Professional guidelines

PubMed

He Y, Quan Z, Zhang R, Ji Z, Jia J, Liu H, Zhang C, He B, Ren Y, Feng Y
Oxid Med Cell Longev 2022;2022:2496649. Epub 2022 Apr 30 doi: 10.1155/2022/2496649. PMID: 35535356Free PMC Article
Barbaro V, Nardiello P, Castaldo G, Willoughby CE, Ferrari S, Ponzin D, Amato F, Bonifazi E, Parekh M, Calistri A, Parolin C, Di Iorio E
Am J Med Genet A 2012 Aug;158A(8):1957-61. Epub 2012 Jun 27 doi: 10.1002/ajmg.a.35414. PMID: 22740388
Lane MM, Dalton WT 3rd, Sherman SA, Bree AF, Czyzewski DI
Am J Med Genet A 2009 Sep;149A(9):1926-34. doi: 10.1002/ajmg.a.32835. PMID: 19504609

Recent clinical studies

Etiology

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R
Dermatol Online J 2021 Nov 15;27(11) doi: 10.5070/D3271156088. PMID: 35130400
Landau Prat D, Katowitz WR, Strong A, Katowitz JA
Orphanet J Rare Dis 2021 May 1;16(1):197. doi: 10.1186/s13023-021-01824-2. PMID: 33933124Free PMC Article
Gushchina MB, Gushchin AV, Afanasyeva DS
Graefes Arch Clin Exp Ophthalmol 2021 Feb;259(2):505-513. Epub 2020 Oct 19 doi: 10.1007/s00417-020-04971-7. PMID: 33074375
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

Diagnosis

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Zhang Z, Cheng R, Liang J, Lu Z, Wang Y, Li M, Yu H, Yao Z
J Dermatol 2019 May;46(5):422-425. Epub 2019 Feb 27 doi: 10.1111/1346-8138.14837. PMID: 30809829
Guo S, Chen R, Xu Y, Mu Y, Chen L
J Craniofac Surg 2017 Jun;28(4):e349-e351. doi: 10.1097/SCS.0000000000003600. PMID: 28230601
Lima LB, Barbosa de Paulo LF, Silva CJ, Mendes VC, Simamoto-Júnior PC, Durighetto AF
Int J Pediatr Otorhinolaryngol 2016 Nov;90:196-199. Epub 2016 Sep 20 doi: 10.1016/j.ijporl.2016.09.023. PMID: 27729131
Mondino BJ
Ophthalmology 1990 Jul;97(7):939-52. doi: 10.1016/s0161-6420(90)32479-x. PMID: 2199891

Therapy

He Y, Quan Z, Zhang R, Ji Z, Jia J, Liu H, Zhang C, He B, Ren Y, Feng Y
Oxid Med Cell Longev 2022;2022:2496649. Epub 2022 Apr 30 doi: 10.1155/2022/2496649. PMID: 35535356Free PMC Article
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
Ferstl P, Wohlfart S, Schneider H
Eur J Pediatr 2018 Nov;177(11):1727-1731. Epub 2018 Aug 7 doi: 10.1007/s00431-018-3227-6. PMID: 30088137
Sharma N, Thenarasun SA, Kaur M, Pushker N, Khanna N, Agarwal T, Vajpayee RB
Ophthalmology 2016 Mar;123(3):484-91. Epub 2015 Dec 11 doi: 10.1016/j.ophtha.2015.10.027. PMID: 26686968
Mondino BJ
Ophthalmology 1990 Jul;97(7):939-52. doi: 10.1016/s0161-6420(90)32479-x. PMID: 2199891

Prognosis

Helenius K, Ojala L, Kainulainen L, Peltonen S, Hietala M, Pohjola P, Parikka V
Eur J Med Genet 2023 May;66(5):104735. Epub 2023 Feb 28 doi: 10.1016/j.ejmg.2023.104735. PMID: 36863510
Zhang Z, Cheng R, Liang J, Lu Z, Wang Y, Li M, Yu H, Yao Z
J Dermatol 2019 May;46(5):422-425. Epub 2019 Feb 27 doi: 10.1111/1346-8138.14837. PMID: 30809829
Lima LB, Barbosa de Paulo LF, Silva CJ, Mendes VC, Simamoto-Júnior PC, Durighetto AF
Int J Pediatr Otorhinolaryngol 2016 Nov;90:196-199. Epub 2016 Sep 20 doi: 10.1016/j.ijporl.2016.09.023. PMID: 27729131
Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M
Am J Med Genet A 2011 Dec;155A(12):3100-3. Epub 2011 Nov 7 doi: 10.1002/ajmg.a.34328. PMID: 22065614
Williams MA, White ST, McGinnity G
Arch Dis Child 2007 Jan;92(1):73-4. doi: 10.1136/adc.2006.103069. PMID: 17185446Free PMC Article

Clinical prediction guides

He Y, Quan Z, Zhang R, Ji Z, Jia J, Liu H, Zhang C, He B, Ren Y, Feng Y
Oxid Med Cell Longev 2022;2022:2496649. Epub 2022 Apr 30 doi: 10.1155/2022/2496649. PMID: 35535356Free PMC Article
Dinçer T, Gümüş E, Toraman B, Er İ, Yildiz G, Yüksel Z, Kalay E
Am J Med Genet A 2021 Jun;185(6):1691-1699. Epub 2021 Mar 13 doi: 10.1002/ajmg.a.62154. PMID: 33713555
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
Koster MI, Dinella J, Chen J, O'Shea C, Koch PJ
Cell Commun Adhes 2014 Feb;21(1):55-63. doi: 10.3109/15419061.2013.876015. PMID: 24460201Free PMC Article
Motil KJ, Fete TJ
Am J Med Genet A 2009 Sep;149A(9):1922-5. doi: 10.1002/ajmg.a.32789. PMID: 19676058

Recent systematic reviews

Correia M, Brunner D, Sharma M, Andrade V, Magno J, Müller A, Pereira BM, Thumann G, Verma N, Bangert M, Kreis AJ, Solomon AW
Ophthalmic Epidemiol 2018 Dec;25(sup1):131-137. doi: 10.1080/09286586.2018.1545037. PMID: 30806540Free PMC Article

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