Phenotype: abnormal eyelid morphology

Definition any structural anomaly of the skin folds covering the front of the eyeball

Synonyms
  • eyelid dysplasia
  • eyelid dysplasia
  • abnormal eye lid morphology
  • abnormal eye lid morphology
  • eyelid abnormalities
  • abnormal eyelids morphology
  • abnormal palpebra morphology
  • abnormal blephara morphology
  • abnormal blepharon morphology
  • abnormal palpebrae morphology
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Related
Synonyms
  • abnormal eyelid fusion
  • abnormal eyelid fusion
  • Hypoplasia of the lower eyelids
  • Hypoplasia of the lower eyelids
  • Long eyelashes in irregular rows
  • absent orbicularis oculi muscle
  • Congenital ptosis
  • eyelids fail to open
  • Cryptophthalmos
  • eyelids open at birth
  • abnormal Meibomian gland acinus morphology
  • abnormal Zeis gland morphology
  • delayed eyelid opening
  • Meibomian gland degeneration
  • short eyelid cilia
  • ectropion
  • Upper eyelid coloboma
  • Ectropion of lower eyelids
  • Ectropion
  • thick eyelids
  • narrow eye opening
  • Eversion of lateral third of lower eyelids
  • abnormal nictitating membrane morphology
  • Eversion of lateral third of lower eyelids
  • Mechanical entropion
  • Short upper eyelashes
  • early eyelid opening
  • abnormal Meibomian gland development
  • Cicatricial lagophthalmos
  • Cicatricial ectropion
  • Cicatricial entropion
  • decreased inner canthal distance
  • Horner syndrome
  • Upper eyelid entropion
  • abnormal eyelid cilium number
  • Involutional entropion
  • Abnormal size of the palpebral fissures
  • Long eyelashes
  • Congenital bilateral ptosis
  • Meibomian gland hypertrophy
  • Cicatricial entropion
  • eyelid hypoplasia
  • Short lower eyelashes
  • Meibomian gland hyperplasia
  • Congenital Horner syndrome
  • Cicatricial ectropion
  • eyelid edema
  • epicanthus inversus
  • Narrow palpebral fissure
  • Epicanthus inversus
  • Long palpebral fissure
  • Short eyelashes
  • failure of eyelid fusion
  • Congenital Horner syndrome
  • Lower eyelid coloboma
  • Meibomian gland atrophy
  • Ablepharon
  • Short upper eyelashes
  • Congenital bilateral ptosis
  • abnormal outer canthus morphology
  • pronounced eyelids
  • Hypoplasia of the upper eyelids
  • Curly eyelashes
  • absent Meibomian glands
  • Paralytic lagophthalmos
  • Palpebral edema
  • Meibomian gland hypoplasia
  • Blepharochalasis
  • abnormal timing of postnatal eyelid opening
  • decreased eyelid cilium number
  • Upper eyelid entropion
  • Narrow palpebral fissure
  • absent eyelids
  • Lower eyelid edema
  • Congenital bilateral ptosis
  • Blepharophimosis
  • Absent eyelashes
  • Chalazion
  • cryptophthalmos
  • Unilateral ptosis
  • Short palpebral fissure
  • Blepharophimosis
  • Lower eyelid edema
  • abnormal eyelid development
  • Congenital bilateral ptosis
  • Upper eyelid edema
  • Long lower eyelashes
  • eyelid retraction
  • delayed eyelid fusion
  • blepharoptosis
  • Upper eyelid edema
  • Lagopthalmos
  • entropion
  • Congenital ptosis
  • narrow eye opening
  • Hypoplasia of eyelid
  • abnormal eyelid cilium morphology
  • Long palpebral fissure
  • Horner syndrome
  • Long upper eyelashes
  • Mechanical entropion
  • Eyelid coloboma
  • abnormal eyelid margin morphology
  • enlarged Meibomian gland
  • orbicularis oculi muscle hypoplasia
  • Involutional entropion
  • abnormal palpebral conjunctiva morphology
  • ankyloblepharon filiform
  • Short lower eyelashes
  • ocular distichiasis
  • Hypoplasia of the lower eyelids
  • Progressive ptosis
  • Ectropion of lower eyelids
  • symblepharon
  • abnormal canthus morphology
  • eyelid hyperplasia
  • abnormal eyelid muscle morphology
  • Short palpebral fissure
  • abnormal eyelid aperture
  • Hypoplasia of the upper eyelids
  • small Meibomian gland
  • Symblepharon
  • Ptosis
  • Bilateral ptosis
  • eyelid retraction
  • abnormal inner canthus morphology
  • Blepharochalasis
  • increased inner canthal distance
  • Progressive ptosis
  • Bilateral ptosis
  • Entropion
  • Nocturnal lagophthalmos
  • Unilateral ptosis
  • abnormal Meibomian gland morphology
  • Meibomian gland cyst
  • abnormal orbicularis oculi muscle morphology
  • Telecanthus
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Phenotype associations stats

0.57% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal eyelid morphology (20/3520)

0.37% females (13/3484) 0.34% males (12/3495)

Gene variants with abnormal eyelid morphology

Total number of significant genotype-phenotype associations: 30

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Axin2
Axin2tm1b(KOMP)Wtsi
HOM Female embryonic day 18.5 abnormal eyelid fusion Gross Morphology Embryo E18.5 | Failure of Eyelid Fusion BCM | IMPC 0.0
Bcl11b
Bcl11btm1.1(KOMP)Vlcg
HOM Female Male embryonic day 18.5 abnormal eyelid fusion Gross Morphology Embryo E18.5 | Failure of Eyelid Fusion JAX | IMPC 0.0
Memo1
Memo1tm1b(EUCOMM)Wtsi
HOM Female embryonic day 18.5 abnormal eyelid fusion Gross Morphology Embryo E18.5 | Failure of Eyelid Fusion BCM | IMPC 0.0
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology MRC Harwell | IMPC 2.21E-29
Barx2
Barx2tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology MRC Harwell | IMPC 4.52E-20
Barx2
Barx2tm1b(EUCOMM)Hmgu
HOM Female Male postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 9.04E-20
Cyb561
Cyb561tm1b(EUCOMM)Wtsi
HOM Male postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 8.93E-14
Dsg1b
Dsg1btm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 3.88E-13
Kat14
Kat14tm1a(KOMP)Wtsi
HOM Male postnatal abnormal eyelid aperture Slit Lamp | Eyelid closure WTSI | MGP 2.58E-11
Kat14
Kat14tm1a(KOMP)Wtsi
HOM Male postnatal eyelids fail to open Modified SHIRPA | Palpebral Closure WTSI | EuroPhenome 5.09E-11
Spns2
Spns2tm1b(KOMP)Wtsi
HOM Female Male postnatal narrow eye opening Eye Morphology | Narrow eye opening WTSI | IMPC 8.6E-9
Barx2
Barx2tm1b(EUCOMM)Hmgu
HOM Female postnatal eyelids fail to open Eye Morphology | Eyelid closure MRC Harwell | IMPC 6.34E-8
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 1.36E-7
Spns2
Spns2tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal eyelid aperture Slit Lamp | Eyelid closure WTSI | MGP 7.24E-6
Fancl
Fancltm1b(EUCOMM)Hmgu
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MARC | IMPC 7.57E-6
Atp5s
Atp5stm1b(EUCOMM)Hmgu
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 1.4E-5
Nxn
Nxntm1b(EUCOMM)Wtsi
HET Female postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 1.98E-5
Frmd6
Frmd6em1(IMPC)H
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 3.53E-5
Pdcd2
Pdcd2tm1b(EUCOMM)Wtsi
HET Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 3.86E-5
Tuft1
Tuft1tm1a(KOMP)Wtsi
HOM Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 3.86E-5
Bmp4
Bmp4tm1b(EUCOMM)Hmgu
HET Male postnatal eyelids fail to open Eye Morphology | Eyelid closure BCM | IMPC 4.14E-5
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Female postnatal narrow eye opening Slit Lamp | Eyelid closure WTSI | EuroPhenome 4.2E-5
Slc20a2
Slc20a2tm1a(EUCOMM)Wtsi
HOM Male postnatal eyelids fail to open Eye Morphology | Eyelid closure WTSI | IMPC 5.78E-5
Dsc2
Dsc2tm1e(KOMP)Wtsi
HOM Male postnatal narrow eye opening Eye Morphology | Narrow eye opening WTSI | IMPC 8.26E-5

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Images

  • Dsg1btm1a(KOMP)Wtsi
    RIGHT EYE, abnormal eyelid morphology, HOM, Female, WTSI
  • Dsg1btm1a(KOMP)Wtsi
    abnormal eyelid morphology, LEFT EYE, HOM, Female, WTSI
  • Cbx6tm1a(EUCOMM)Wtsi
    abnormal eyelid morphology, RIGHT EYE, narrow eye opening, HOM, Female, WTSI
  • Suv420h1tm1a(KOMP)Wtsi
    EYE, narrow eye opening, abnormal eyelid morphology, HOM, Female, WTSI
  • Dsg1btm1a(KOMP)Wtsi
    abnormal eyelid morphology, HOM, Female, WTSI

Associated Images

  • Eye Morphology: Images Slit Lamp
    1 Images