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Eyelid coloboma

MedGen UID:
141737
Concept ID:
C0521573
Congenital Abnormality
Synonym: Cleft eyelid
SNOMED CT: Coloboma of eyelid (95202004); Eyelid coloboma (95202004); Coloboma palpebrale (95202004); Palpebral coloboma (95202004); Coloboma of lid (95202004); Congenital notching of palpebral fissure (95202004)
 
HPO: HP:0000625
Monarch Initiative: MONDO:0020357
Orphanet: ORPHA98946

Definition

A short discontinuity of the margin of the lower or upper eyelid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEyelid coloboma
Follow this link to review classifications for Eyelid coloboma in Orphanet.

Conditions with this feature

Amniotic band syndrome
MedGen UID:
66322
Concept ID:
C0220724
Congenital Abnormality
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
Miller syndrome
MedGen UID:
120522
Concept ID:
C0265257
Disease or Syndrome
Miller syndrome, also known as postaxial acrofacial dysostosis (POADS), is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010).
Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
Encephalocraniocutaneous lipomatosis
MedGen UID:
140807
Concept ID:
C0406612
Congenital Abnormality
Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum.
11q partial monosomy syndrome
MedGen UID:
162878
Concept ID:
C0795841
Disease or Syndrome
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986).
Oculocerebrocutaneous syndrome
MedGen UID:
163214
Concept ID:
C0796092
Disease or Syndrome
A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.
Microbrachycephaly-ptosis-cleft lip syndrome
MedGen UID:
162914
Concept ID:
C0796142
Disease or Syndrome
The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate (Richieri-Costa and Guion-Almeida, 1992).
MOMO syndrome
MedGen UID:
371897
Concept ID:
C1834759
Disease or Syndrome
A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Toriello-Lacassie-Droste syndrome
MedGen UID:
333068
Concept ID:
C1838329
Disease or Syndrome
Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).
Oculotrichoanal syndrome
MedGen UID:
383680
Concept ID:
C1855425
Disease or Syndrome
FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.
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).
Diamond-Blackfan anemia 11
MedGen UID:
766956
Concept ID:
C3554042
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.

Professional guidelines

PubMed

Mortensen ZQ, Simmons BA, Shriver EM, Carter KD, Downes SJ
Ophthalmic Plast Reconstr Surg 2022 Jan-Feb 01;38(1):e10-e13. doi: 10.1097/IOP.0000000000002057. PMID: 34570047
Vargel I, Canter HI, Kucukguven A, Aydin A, Ozgur F
Cleft Palate Craniofac J 2022 May;59(5):637-643. Epub 2021 Jun 8 doi: 10.1177/10556656211019621. PMID: 34098755
Tawfik HA, Abdulhafez MH, Fouad YA
Ophthalmic Plast Reconstr Surg 2015 Jan-Feb;31(1):1-12. doi: 10.1097/IOP.0000000000000347. PMID: 25419956Free PMC Article

Recent clinical studies

Etiology

Shenoy RD, Shetty V, Dheedene A, Menten B, Pandyanda Nanjappa D, Chakraborty G, Sips P, de Paepe A, Callewaert B, Chakraborty A
Cleft Palate Craniofac J 2022 Nov;59(11):1346-1351. Epub 2021 Oct 29 doi: 10.1177/10556656211050006. PMID: 34714179
Al Essa D, Khandekar R, Galindo-Ferreiro A, Edward DP, Maktabi A, Al Hussein H, Al Sheikh O, Strianese D, Schellini SA
Orbit 2020 Oct;39(5):325-330. Epub 2019 Nov 13 doi: 10.1080/01676830.2019.1690006. PMID: 31722593
Lessa S, Sebastiá R, Pontello J
Ophthalmic Plast Reconstr Surg 2019 Sep/Oct;35(5):491-494. doi: 10.1097/IOP.0000000000001353. PMID: 30865066
Rüegg EM, Bartoli A, Rilliet B, Scolozzi P, Montandon D, Pittet-Cuénod B
J Plast Reconstr Aesthet Surg 2019 Apr;72(4):676-684. Epub 2019 Jan 9 doi: 10.1016/j.bjps.2019.01.001. PMID: 30691993
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Diagnosis

Vargel I, Canter HI, Kucukguven A, Aydin A, Ozgur F
Cleft Palate Craniofac J 2022 May;59(5):637-643. Epub 2021 Jun 8 doi: 10.1177/10556656211019621. PMID: 34098755
Singh M, Kaur M, Grewal AM, Yangzes S, Yadav D, Zadeng Z, Gupta P
Int Ophthalmol 2020 Mar;40(3):667-675. Epub 2019 Nov 23 doi: 10.1007/s10792-019-01227-0. PMID: 31760545
Tawfik HA, Abdulhafez MH, Fouad YA
Ophthalmic Plast Reconstr Surg 2015 Jan-Feb;31(1):1-12. doi: 10.1097/IOP.0000000000000347. PMID: 25419956Free PMC Article
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Feingold M, Baum J
Am J Dis Child 1978 Feb;132(2):136-8. doi: 10.1001/archpedi.1978.02120270034006. PMID: 626178

Therapy

Read RW, Burnstine M, Rowland JM, Zamir E, Rao NA
Ophthalmology 2001 Apr;108(4):798-804. doi: 10.1016/s0161-6420(00)00638-2. PMID: 11297501
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Prognosis

Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Smith HB, Verity DH, Collin JR
Eye (Lond) 2015 Apr;29(4):492-8. Epub 2015 Jan 23 doi: 10.1038/eye.2014.335. PMID: 25613848Free PMC Article
Hassani ME, Karimi H, Hassani H, Hassani A, Jalili-Manesh M
J Craniofac Surg 2014 Jan;25(1):e7-9. doi: 10.1097/SCS.0b013e3182a2ec3a. PMID: 24275777
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Indian J Ophthalmol 2011 Sep-Oct;59(5):379-80. doi: 10.4103/0301-4738.83615. PMID: 21836344Free PMC Article
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Clinical prediction guides

Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Smith HB, Verity DH, Collin JR
Eye (Lond) 2015 Apr;29(4):492-8. Epub 2015 Jan 23 doi: 10.1038/eye.2014.335. PMID: 25613848Free PMC Article
Grover AK, Chaudhuri Z, Malik S, Bageja S, Menon V
J Pediatr Ophthalmol Strabismus 2009 May-Jun;46(3):151-9. doi: 10.3928/01913913-20090505-06. PMID: 19496496
Orioli IM, Ribeiro MG, Castilla EE
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Nouby G
Ophthalmic Plast Reconstr Surg 2002 Sep;18(5):373-7. doi: 10.1097/00002341-200209000-00010. PMID: 12352825

Recent systematic reviews

Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ
Int J Oral Maxillofac Surg 2020 Sep;49(9):1107-1114. Epub 2020 Mar 23 doi: 10.1016/j.ijom.2020.03.003. PMID: 32217034

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