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Ablepharon

MedGen UID:
120585
Concept ID:
C0266574
Congenital Abnormality
Synonyms: Ablepharon (absent eyelids); Absent eyelids
SNOMED CT: Ablepharon - absent eyelids (13401001); Ablepharon (13401001); Ablepharia (13401001); Open eye (13401001); Congenital absence of eyelid (708541009); Complete ablepharon (708541009); Agenesis of eyelid (708541009)
 
HPO: HP:0011224

Definition

Absent eyelids. [from HPO]

Conditions with this feature

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).
Ablepharon macrostomia syndrome
MedGen UID:
395439
Concept ID:
C1860224
Disease or Syndrome
Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).
Neu-Laxova syndrome 2
MedGen UID:
863456
Concept ID:
C4015019
Disease or Syndrome
Neu-Laxova syndrome-2 (NLS2) is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected individuals have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014). For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (256520).
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Neu-Laxova syndrome 1
MedGen UID:
1633287
Concept ID:
C4551478
Disease or Syndrome
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.

Recent clinical studies

Etiology

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Xu H, Qiu Y, Wang X, Tian R, Zhang J, Jiang M, Du Y
J Craniofac Surg 2019 May/Jun;30(3):907-910. doi: 10.1097/SCS.0000000000005161. PMID: 31048616
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
Abdel-Naser MB, Zouboulis CC
Rev Endocr Metab Disord 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. PMID: 27342409
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864

Diagnosis

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Cruz AAV, Quiroz D, Boza T, Wambier SPF, Akaishi PS
Ophthalmic Plast Reconstr Surg 2020 Jan/Feb;36(1):21-25. doi: 10.1097/IOP.0000000000001442. PMID: 31373987
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
De Maria B, Mazzanti L, Roche N, Hennekam RC
Am J Med Genet A 2016 Aug;170(8):1989-2001. Epub 2016 May 19 doi: 10.1002/ajmg.a.37757. PMID: 27196381
Dollfus H, Verloes A
Surv Ophthalmol 2004 Nov-Dec;49(6):547-61. doi: 10.1016/j.survophthal.2004.08.001. PMID: 15530943

Therapy

Ciriaco P, Carretta A, Negri G
BMC Pulm Med 2019 Aug 28;19(1):163. doi: 10.1186/s12890-019-0921-8. PMID: 31462237Free PMC Article

Prognosis

Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864

Clinical prediction guides

Xu H, Qiu Y, Wang X, Tian R, Zhang J, Jiang M, Du Y
J Craniofac Surg 2019 May/Jun;30(3):907-910. doi: 10.1097/SCS.0000000000005161. PMID: 31048616
Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K
Am J Med Genet A 2018 Dec;176(12):2777-2780. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40525. PMID: 30450715
Kim S, Twigg SRF, Scanlon VA, Chandra A, Hansen TJ, Alsubait A, Fenwick AL, McGowan SJ, Lord H, Lester T, Sweeney E, Weber A, Cox H, Wilkie AOM, Golden A, Corsi AK
Hum Mol Genet 2017 Jun 1;26(11):2118-2132. doi: 10.1093/hmg/ddx107. PMID: 28369379Free PMC Article
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC
Am J Hum Genet 2015 Jul 2;97(1):99-110. Epub 2015 Jun 25 doi: 10.1016/j.ajhg.2015.05.017. PMID: 26119818Free PMC Article
Dollfus H, Verloes A
Surv Ophthalmol 2004 Nov-Dec;49(6):547-61. doi: 10.1016/j.survophthal.2004.08.001. PMID: 15530943

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