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Lagophthalmos

MedGen UID:
57517
Concept ID:
C0152226
Disease or Syndrome
Synonym: Lagophthalmia (incomplete closure of eyelids)
SNOMED CT: Lagophthalmos (60735000); Defective lid closure (60735000); Poor closure eyelids (60735000)
 
HPO: HP:0030001
Monarch Initiative: MONDO:0001604

Definition

A condition in which the eyelids do not close to cover the eye completely. [from HPO]

Conditions with this feature

Facial paresis, hereditary congenital, 3
MedGen UID:
766539
Concept ID:
C3553625
Disease or Syndrome
HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., 157900), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see 601471.
Distal arthrogryposis type 5D
MedGen UID:
767329
Concept ID:
C3554415
Disease or Syndrome
This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia. For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145).
Orofacial cleft 15
MedGen UID:
909661
Concept ID:
C4225209
Congenital Abnormality
Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.
Au-Kline syndrome
MedGen UID:
900671
Concept ID:
C4225274
Disease or Syndrome
Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and downturned mouth. There is frequently variable autonomic dysfunction (gastrointestinal dysmotility, high pain threshold, heat intolerance, recurrent fevers, abnormal sweating). Congenital heart disease, hydronephrosis, palate abnormalities, and oligodontia are also reported in the majority of affected individuals. Additional complications can include craniosynostosis, feeding difficulty, vision issues, osteopenia, and other skeletal anomalies.
Blepharocheilodontic syndrome 2
MedGen UID:
1623594
Concept ID:
C4540127
Disease or Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).\n\nPeople with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.\n\nOther features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.\n\nOccasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.
Blepharocheilodontic syndrome 1
MedGen UID:
1632198
Concept ID:
C4551988
Disease or Syndrome
The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).
Neuroocular syndrome
MedGen UID:
1790414
Concept ID:
C5551362
Disease or Syndrome
Neuroocular syndrome (NOC) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021).
Carey-Fineman-Ziter syndrome 1
MedGen UID:
1804638
Concept ID:
C5676876
Disease or Syndrome
Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome Carey-Fineman-Ziter syndrome-2 (CFZS2) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.

Professional guidelines

PubMed

Moncaliano MC, Ding P, Goshe JM, Genther DJ, Ciolek PJ, Byrne PJ
J Plast Reconstr Aesthet Surg 2023 Dec;87:361-368. Epub 2023 Oct 20 doi: 10.1016/j.bjps.2023.10.102. PMID: 37931512
Rita MRH, Deepa M, Gitanjali VC, Tinu SR, Subbulakshmi B, Sujitha D, Palthya G, Saradha M, Vedhavalli T, Sowmiya B, Akalya R, Mathivadhani LS, Uma M, Bhavani R, Violet JR
Indian J Ophthalmol 2022 Aug;70(8):3077-3082. doi: 10.4103/ijo.IJO_3017_21. PMID: 35918976Free PMC Article
Wolkow N, Chodosh J, Freitag SK
Int Ophthalmol Clin 2017 Fall;57(4):85-103. doi: 10.1097/IIO.0000000000000185. PMID: 28885249

Recent clinical studies

Etiology

Knoedler L, Alfertshofer M, Simon S, Prantl L, Kehrer A, Hoch CC, Knoedler S, Lamby P
Sci Rep 2023 Dec 8;13(1):21657. doi: 10.1038/s41598-023-49006-3. PMID: 38066112Free PMC Article
Denisova K, Barmettler A
Curr Opin Ophthalmol 2020 Jul;31(4):241-246. doi: 10.1097/ICU.0000000000000667. PMID: 32487809
Fernández Canga P, Varas Meis E, Castiñeiras González J, Prada García C, Rodríguez Prieto MÁ
Actas Dermosifiliogr (Engl Ed) 2020 Apr;111(3):229-235. Epub 2020 Feb 6 doi: 10.1016/j.ad.2019.06.004. PMID: 32033770
Grzybowski A, Nita M, Virmond M
Clin Dermatol 2015 Jan-Feb;33(1):79-89. doi: 10.1016/j.clindermatol.2014.07.003. PMID: 25432813
Odat TA, Odat HA, Khraisat H, Odat MA, Alzoubi FQ
Int Ophthalmol 2015 Jun;35(3):375-9. Epub 2014 Jun 7 doi: 10.1007/s10792-014-9957-1. PMID: 24906865

Diagnosis

Knoedler L, Alfertshofer M, Simon S, Prantl L, Kehrer A, Hoch CC, Knoedler S, Lamby P
Sci Rep 2023 Dec 8;13(1):21657. doi: 10.1038/s41598-023-49006-3. PMID: 38066112Free PMC Article
Osorio S, Rivillas ND, Martinez JA
J Pediatr Urol 2021 Apr;17(2):246-254. Epub 2021 Jan 24 doi: 10.1016/j.jpurol.2021.01.017. PMID: 33558177
Grzybowski A, Nita M, Virmond M
Clin Dermatol 2015 Jan-Feb;33(1):79-89. doi: 10.1016/j.clindermatol.2014.07.003. PMID: 25432813
Pereira MV, Glória AL
Semin Ophthalmol 2010 May;25(3):72-8. doi: 10.3109/08820538.2010.488578. PMID: 20590416
Fitzsimons RB
Curr Opin Neurol 1999 Oct;12(5):501-11. doi: 10.1097/00019052-199910000-00003. PMID: 10590886

Therapy

Wolkow N, Chodosh J, Freitag SK
Int Ophthalmol Clin 2017 Fall;57(4):85-103. doi: 10.1097/IIO.0000000000000185. PMID: 28885249
Mantagos IS, Kleinman ME, Kieran MW, Gordon LB
Am J Ophthalmol 2017 Oct;182:126-132. Epub 2017 Jul 27 doi: 10.1016/j.ajo.2017.07.020. PMID: 28756152
Odat TA, Odat HA, Khraisat H, Odat MA, Alzoubi FQ
Int Ophthalmol 2015 Jun;35(3):375-9. Epub 2014 Jun 7 doi: 10.1007/s10792-014-9957-1. PMID: 24906865
Waller EA, Bendel RE, Kaplan J
Mayo Clin Proc 2008 Nov;83(11):1251-61. doi: 10.4065/83.11.1251. PMID: 18990324
Chavis PS
Curr Opin Ophthalmol 2002 Dec;13(6):352-6. doi: 10.1097/00055735-200212000-00002. PMID: 12441836

Prognosis

Park RB, Akella SS, Aakalu VK
Orbit 2023 Feb;42(1):11-24. Epub 2022 Sep 30 doi: 10.1080/01676830.2022.2122514. PMID: 36178005Free PMC Article
MacIntosh PW, Fay AM
Surv Ophthalmol 2019 Jan-Feb;64(1):79-89. Epub 2018 Jun 8 doi: 10.1016/j.survophthal.2018.06.001. PMID: 29886125
Mantagos IS, Kleinman ME, Kieran MW, Gordon LB
Am J Ophthalmol 2017 Oct;182:126-132. Epub 2017 Jul 27 doi: 10.1016/j.ajo.2017.07.020. PMID: 28756152
Grzybowski A, Nita M, Virmond M
Clin Dermatol 2015 Jan-Feb;33(1):79-89. doi: 10.1016/j.clindermatol.2014.07.003. PMID: 25432813
Lyons CJ, McNab AA
Aust N Z J Ophthalmol 1990 Nov;18(4):393-6. doi: 10.1111/j.1442-9071.1990.tb01823.x. PMID: 2076287

Clinical prediction guides

Knoedler L, Alfertshofer M, Simon S, Prantl L, Kehrer A, Hoch CC, Knoedler S, Lamby P
Sci Rep 2023 Dec 8;13(1):21657. doi: 10.1038/s41598-023-49006-3. PMID: 38066112Free PMC Article
Cang ZQ, Liu CH, Cui JB, Fan X, Chen YJ, Song BQ, Hao DY, Peng P, Cao J
Plast Reconstr Surg 2023 Nov 1;152(5):885e-894e. Epub 2023 Mar 7 doi: 10.1097/PRS.0000000000010368. PMID: 36877618
Clarós P, Choffor-Nchinda E, Lopez-Fortuny M, Claros A, Quintana S
Acta Otolaryngol 2019 Aug;139(8):720-725. Epub 2019 Jun 1 doi: 10.1080/00016489.2019.1618913. PMID: 31155992
Mantagos IS, Kleinman ME, Kieran MW, Gordon LB
Am J Ophthalmol 2017 Oct;182:126-132. Epub 2017 Jul 27 doi: 10.1016/j.ajo.2017.07.020. PMID: 28756152
Lyons CJ, McNab AA
Aust N Z J Ophthalmol 1990 Nov;18(4):393-6. doi: 10.1111/j.1442-9071.1990.tb01823.x. PMID: 2076287

Recent systematic reviews

Ahmad R, Rehman U, Sohaib Sarwar M, Ahmed Z, Adebayo O, Brennan PA
Br J Oral Maxillofac Surg 2024 Feb;62(2):128-139. Epub 2023 Dec 5 doi: 10.1016/j.bjoms.2023.11.013. PMID: 38290862
Chen Y, He J, Wu Q, Pu S, Song C
Nurs Open 2024 Jan;11(1):e2061. doi: 10.1002/nop2.2061. PMID: 38268267Free PMC Article
Dhooghe N, Brusselle M, Ureel M, Sinove Y, Vermeersch H, Blondeel P
J Plast Reconstr Aesthet Surg 2024 Feb;89:57-71. Epub 2023 Nov 24 doi: 10.1016/j.bjps.2023.11.029. PMID: 38142623
Chen L, Li J, Zhang C, Li Y, Hou L, Ma J
Aesthetic Plast Surg 2023 Oct;47(5):1859-1869. Epub 2023 May 5 doi: 10.1007/s00266-023-03360-9. PMID: 37145320
Byun S, Mukovozov I, Farrokhyar F, Thoma A
Aesthet Surg J 2013 Feb;33(2):189-200. doi: 10.1177/1090820X12471829. PMID: 23388642

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