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
  • Blepharochalasis
  • Blepharochalasis
  • Broad opening between the eyelids
  • Broad opening between the eyelids
  • Broad palpebral fissure
  • Cellulitis of lower eyelid
  • Cellulitis of upper eyelid
  • Ciliary trichomegaly
  • Corners of eye widely separated
  • Curly eyelashes
  • Decreased length of eyelashes
  • Decreased size of lower eyelid
  • Decreased size of upper eyelid
  • Dystopia canthorum
  • Ectropion of lower eyelids
  • Eversion of lateral third of lower eyelids
  • Everted lower eyelids
  • Fullness of lower eyelid
  • Fullness of upper eyelid
  • Hypoplasia of the lower eyelids
  • Hypoplasia of the upper eyelids
  • Hypotrophic lower eyelid
  • Hypotrophic upper eyelid
  • Increased distance between medial canthi
  • Increased intercanthal distance
  • Increased length of eyelashes
  • Long eyelashes
  • Long opening between the eyelids
  • Long palpebral fissure
  • Long palpebral fissures
  • Lower eyelid edema
  • Lower eyelid folded out
  • Lower eyelid turned out
  • Meibomian cyst
  • Meibomian gland cyst
  • Meibomian gland degeneration
  • Meibomian gland lipogranuloma
  • Puffiness of lower eyelid
  • Puffiness of upper eyelid
  • Saggy upper eyelid skin
  • Short eyelashes
  • Short lower eyelid
  • Short upper eyelid
  • Small lower eyelid
  • Small upper eyelid
  • Swelling of lower eyelid
  • Swelling of upper eyelid
  • Telecanthus
  • Underdevelopment of lower eyelid
  • Underdevelopment of upper eyelid
  • Unusually long eyelashes
  • Upper eyelid edema
  • Wide opening between the eyelids
  • Wide palpebral fissure
  • Wide palpebral fissures
  • abnormal Meibomian gland acinus morphology
  • abnormal Meibomian gland development
  • abnormal Meibomian gland morphology
  • abnormal Zeis gland morphology
  • abnormal canthi
  • abnormal canthus morphology
  • abnormal ciliary sebaceous gland of eyelid
  • abnormal conjunctival layer of eyelids morphology
  • abnormal eyelash morphology
  • abnormal eyelash number
  • abnormal eyelid border morphology
  • abnormal eyelid cilia morphology
  • abnormal eyelid cilia number
  • abnormal eyelid cilium morphology
  • abnormal eyelid cilium number
  • abnormal eyelid margin morphology
  • abnormal gland of Zeis morphology
  • abnormal inner canthus morphology
  • abnormal lash morphology
  • abnormal lash number
  • abnormal lateral canthus morphology
  • abnormal lateral palpebral commissure morphology
  • abnormal limbi palpebrales morphology
  • abnormal margo palpebrae morphology
  • abnormal medial canthus morphology
  • abnormal medial palpebral commissure morphology
  • abnormal meibomian gland acini
  • abnormal nictitans morphology
  • abnormal nictitating membrane morphology
  • abnormal outer canthus morphology
  • abnormal palpebral commissure morphology
  • abnormal palpebral commissures
  • abnormal palpebral conjunctiva morphology
  • abnormal palpebral margin morphology
  • abnormal palperbra tertia morphology
  • abnormal tarsal gland
  • abnormal tarsal gland development
  • abnormal temporal canthus morphology
  • abnormal third eyelid morphology
  • absent Meibomian glands
  • ankyloblepharon filiform
  • atretoblepharia
  • blephara retraction
  • blepharedema
  • blepharoedema
  • blepharon retraction
  • blepharoptosis
  • bulgy eyelids
  • chalazia
  • chalazion
  • closely spaced inner corners of the eyes
  • cryptophthalmos
  • decreased distance between the inner canthi
  • decreased distance between the medial canthi
  • decreased eyelash length
  • decreased eyelid cilia length
  • decreased eyelid cilium length
  • decreased inner canthal distance
  • decreased inner intercanthal distance
  • decreased lash length
  • decreased meibomian gland size
  • decreased tarsal gland size
  • delayed eye lid opening
  • delayed eye opening
  • delayed eyelid opening
  • drooping eye lids
  • drooping eyelids
  • dystopia canthorum
  • early eye lid opening
  • early eyelid opening
  • ectropion
  • enlarged Meibomian gland
  • enlarged tarsal gland
  • entropion
  • epicanthus inversus
  • everted eye lids
  • everted eyelids
  • eye lid edema
  • eye lid hyperplasia
  • eye lid hypoplasia
  • eye lid retraction
  • eyelid edema
  • eyelid hyperplasia
  • eyelid hypoplasia
  • eyelid lump
  • eyelid retraction
  • eyelids open at birth
  • hyperplastic eye lid
  • hyperplastic eyelid
  • hyperplastic eyelids
  • hypoplastic eye lid
  • hypoplastic eyelid
  • hypoplastic eyelids
  • increased distance between the inner canthi
  • increased distance between the medial canthi
  • increased inner canthal distance
  • increased inner intercanthal distance
  • increased intercanthal distance
  • increased meibomian gland size
  • increased tarsal gland size
  • inverted eye lids
  • inverted eyelid
  • meibomian gland dysplasia
  • open eye lids
  • open eyelids
  • palpebra retraction
  • palpebrae retraction
  • palpebral edema
  • palpebral-bulbar adhesion
  • palpebraoptosis
  • palpebredema
  • palpebroedema
  • pronounced eye lids
  • pronounced eyelids
  • protruding eyelids
  • ptosis
  • ptosis of the eye
  • puffy eyelids
  • reduced intercanthal distance
  • reduced meibomian gland size
  • reduced tarsal gland size
  • rolled in eyelids
  • rolled out eyelids
  • short eyelid cilia
  • small Meibomian gland
  • small tarsal gland
  • swollen eyelids
  • symblepharon
  • tarsal cyst
  • tarsal gland cyst
  • tarsal gland degeneration
  • telecanthus
  • thick eye lids
  • thick eyelids
  • widely separated inner corners of the eyes
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Phenotype associations stats

0.69% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal eyelid morphology (22/3199)

0.50% females (16/3193) 0.41% males (13/3196)

Gene variants with abnormal eyelid morphology

Total number of significant genotype-phenotype associations: 36

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 4.33E-29
Fgf10
Fgf10tm1b(EUCOMM)Wtsi
HET Female Male postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 2.77E-22
Barx2
Barx2tm1b(EUCOMM)Hmgu
HOM Female Male postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 7.45E-20
Barx2
Barx2tm1b(EUCOMM)Hmgu
HOM Female postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology MRC Harwell | IMPC 7.47E-20
Cyb561
Cyb561tm1b(EUCOMM)Wtsi
HOM Male postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 1.22E-13
Dsg1b
Dsg1btm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 4.11E-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
Smoc1
Smoc1tm1b(EUCOMM)Wtsi
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 2.4E-10
Smurf2
Smurf2tm1b(EUCOMM)Wtsi
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 3.17E-9
Spns2
Spns2tm1b(KOMP)Wtsi
HOM Female Male postnatal narrow eye opening Eye Morphology | Narrow eye opening WTSI | IMPC 8.6E-9
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 1.41E-7
Barx2
Barx2tm1b(EUCOMM)Hmgu
HOM Female postnatal eyelids fail to open Eye Morphology | Eyelid closure MRC Harwell | IMPC 1.57E-7
Fancl
Fancltm1b(EUCOMM)Hmgu
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MARC | IMPC 1.66E-7
Spns2
Spns2tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal eyelid aperture Slit Lamp | Eyelid closure WTSI | MGP 7.24E-6
Smurf2
Smurf2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology MRC Harwell | IMPC 8.68E-6
Nxn
Nxntm1b(EUCOMM)Wtsi
HET Female postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 2.03E-5
Pdcd2
Pdcd2tm1b(EUCOMM)Wtsi
HET Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 4.2E-5
Tuft1
Tuft1tm1a(KOMP)Wtsi
HOM Male postnatal abnormal eyelid morphology Eye Morphology | Eyelid morphology WTSI | IMPC 4.2E-5
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Female postnatal narrow eye opening Slit Lamp | Eyelid closure WTSI | EuroPhenome 4.2E-5
Atp5s
Atp5stm1b(EUCOMM)Hmgu
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 4.3E-5
Dsc2
Dsc2tm1e(KOMP)Wtsi
HOM Male postnatal narrow eye opening Eye Morphology | Narrow eye opening WTSI | IMPC 4.5E-5
Slc20a2
Slc20a2tm1a(EUCOMM)Wtsi
HOM Male postnatal eyelids fail to open Eye Morphology | Eyelid closure WTSI | IMPC 6.28E-5
Tuft1
Tuft1tm1a(KOMP)Wtsi
HOM Male postnatal narrow eye opening Eye Morphology | Narrow eye opening WTSI | IMPC 6.28E-5
Frmd6
Frmd6em2H
HOM Female postnatal narrow eye opening Eye Morphology | Narrow eye opening MRC Harwell | IMPC 6.72E-5

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Images

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

Associated Images

  • Eye Morphology: Images Slit Lamp
    1 Images