Duplication Syndromes |
1q+ | Narrow horizontal lid fissures, synophrys, colobomatous microphthalmia |
2p+ | Hypertelorism, epicanthus, strabismus, narrow palpebral fissures,
blepharoptosis and blepharophimosis, nasolacrimal duct obstruction,
coloboma, microphthalmia, congenital glaucoma, persistent hyperplastic
primary vitreous, optic atrophy |
2q+ | Epicanthus, hypertelorism, upward or downward slanting of
the lid fissures, blepharitis, microcornea, congenital glaucoma,
dislocated lenses, macular hypoplasia, nystagmus, colobomatous microphthalmia |
3p+ | Hypertelorism, epicanthus, microphthalmia, cyclopia |
3q+ | Hypertelorism, epicanthus, corneal opacities, colobomatous
microphthalmia, synophrys, strabismus, cataract, congenital glaucoma,
nystagmus |
4p+ | Microphthalmia, strabismus, downward slanting of the lid
fissures, hypertelorism, coloboma, blepharophimosis, epicanthus,
deep set eyes, bushy eyelashes, strabismus, nystagmus |
4q+ | Colobomatous microphthalmia, downward slanting of the lid
fissures, epicanthus, blepharophimosis and blepharoptosis, corneal clouding |
5p+ | Hypertelorism, epicanthus, upward slanting of the lid fissures,
strabismus, cataracts, nystagmus, colobomatous microphthalmia |
5q+ | Epicanthus, hypertelorism, strabismus |
6p+ | Hypertelorism, long lashes, blepharoptosis and blepharophimosis,
strabismus, optic atrophy, microphthalmia |
6q+ | Downward slanting of the lid fissures, epicanthus, hypertelorism,
blepharoptosis, strabismus, thin arched eyebrows, hypoplastic superior
orbital ridges |
7p+ | Hypertelorism, epicanthus, upward or downward slanting of
the lid fissures, microphthalmia |
7q+ | Hypertelorism, downward slanting and/or narrowing
of the lid fissures, epicanthus, strabismus, absent lateral rectus
muscles, “prominent eyes,” long lashes, optic
nerve hypoplasia, colobomatous microphthalmia |
Trisomy 8 | Downward slanting of the lid fissures, hypertelorism, blepharoptosis,
strabismus, corneal opacities, colobomatous microphthalmia |
8p+ | Hypertelorism, upward slanting of the lid fissures |
8q+ | Hypertelorism, upward slanting of the lid fissures, colobomatous
microphthalmia |
Trisomy 9 | Upward or downward slanting and narrowing of the lid fissures,
hypertelorism, epibulbar dermoid, corneal opacities, enophthalmos,
microphthalmia |
9p+ | Microphthalmia, strabismus, downward slanting of the lid
fissures, entropion, hypertelorism, enophthalmos, cataracts |
9q+ | Epicanthus, hypertelorism, narrow palpebral fissures, strabismus,
blepharoptosis, microphthalmia, enophthalmos |
10p+ | Hypertelorism, upward slanting of the lid fissures, long
eyelashes, microphthalmia, coloboma |
10q+ | Epicanthus, hypertelorism, cataract, blepharoptosis, downward
slanting and/or narrowing of the lid fissures, blepharophimosis,
strabismus, microphthalmia |
11p+ | Epicanthus, hypertelorism, downward slanting of the lid fissures,
blepharophimosis, strabismus, microphthalmia |
11q+ | Hypotelorism or hypertelorism, epicanthus, downward slanting
of the lid fissures, conical corneal shape, corectopia, strabismus |
12p+ | Hypertelorism, epicanthus, horizontal palpebral fissures,
Brushfield spots |
12q+ | Epicanthus, hypertelorism, upward slanting and/or
narrowing of the lid fissures, heavy eyebrows |
Trisomy 13 (Patau syndrome) | Colobomatous microphthalmia, anophthalmia, cyclopia, microcornea,
congenital glaucoma, corneal opacities, cataract, optic nerve hypoplasia,
optic atrophy, persistent hyperplastic primary vitreous, retinal
dysplasia, strabismus, intraocular cartilage |
13q+ | Hypertelorism or hypotelorism, upward or downward slant of
the eyelids, blepharoptosis, synophrys, strabismus, coloboma, long thick
upturned lashes, colobomatous microphthalmia |
Trisomy 14 | Hypotelorism or hypertelorism, downward slanting of the lid
fissures, blepharoptosis, enophthalmos, ectropion, microphthalmia |
14q+ | Hypotelorism or hypertelorism, downward slanting of the lid
fissures, blepharoptosis or blepharophimosis, microphthalmia, congenital
glaucoma, strabismus |
15q+ | Downward slanting of the lid fissures, epicanthus, strabismus,
blepharoptosis, cataract, retinal detachment, enophthalmos, microphthalmia |
16p+ | Hypertelorism, sparse eyelashes, blepharoptosis, upward or
downward slanting and narrowing of the lid fissures, nystagmus, |
16q+ | Hypertelorism, epicanthus, downward slanting and/or
narrowing of the lid fissures, decreased or long lashes, ectropion,
periorbital edema, enophthalmos, strabismus |
17p+ | Hypertelorism, upward or downward slanting and/or
narrowing of the lid fissures, blepharoptosis, microphthalmia |
17q+ | Hypertelorism, narrow lid fissures |
Trisomy 18 (Edwards syndrome) | Epicanthus, hypertelorism, hypoplastic supraorbital ridges,
corneal opacities, congenital glaucoma, microphthalmia, cataract, colobomatous
microphthalmia, retinal depigmentation, cyclopia |
18p+ | Hypotelorism, downward slanting of the lid fissures, strabismus |
18q+ | Epicanthus, blepharoptosis, synophrys, enophthalmos, hypertelorism,
upward slanting of the lid fissures |
19q+ (de Grounchy syndrome) | Hypertelorism, downward slanting of the lid fissures, blepharoptosis |
20p+ | Epicanthus, hypertelorism, upward or downward slanting of
the lid fissures, Rieger syndrome, enophthalmos, colobomas, strabismus |
Trisomy 21 (Down syndrome) | Epicanthus, upward slanting of the lid fissures, myopia,
strabismus, nystagmus, cataracts, Brushfield spots of the iris,
infantile glaucoma, keratoconus, increased number of retinal vessels,
optic nerve hypoplasia, ectropion, blepharitis |
Trisomy 22 | Hypertelorism, blepharoptosis, upward or downward slanting
of the lid fissures, epicanthus, optic nerve hypoplasia, cataracts, synophrys,
strabismus, colobomatous microphthalmia, persistent hyperplastic
primary vitreous |
22q+ (cat-eye syndrome) | Colobomatous microphthalmia, blepharoptosis, hypertelorism,
downward slanting of the lid fissures, strabismus |
Triploidy | Colobomatous microphthalmia, hypertelorism, cataracts, glaucoma |
Deletion Syndromes |
1q– | Upward and downward slanting lid fissures, epicanthus, hypertelorism,
blepharoptosis, strabismus, synophrys, microphthalmia |
2q– | Downward slanting lid fissures, narrow lid fissures, epicanthus,
thick eyebrows and lashes, blepharoptosis and blepharophimosis, corneal
opacities, cataracts, optic nerve hypoplasia, nystagmus, colobomatous
microphthalmia |
3p– | Hypertelorism, epicanthus, downward slanting lid fissures
and narrow lid fissures, synophrys, blepharoptosis, optic atrophy |
3q– | Narrow lid fissures, epicanthus, blepharoptosis, cataract,
strabismus, colobomatous microphthalmia |
4p– (Wolf-Hirschhorn syndrome) | Corectopia, Peters anomaly, Rieger anomaly, colobomatous
microphthalmia, strabismus, download slanting of the lid fissures, blepharoptosis,
eyebrow defects, exophthalmos, cataracts, epicanthus, strabismus |
4q– | Hypertelorism, epicanthus, laterally displaced inner canthi,
upward or downward slanting of the lid fissures, features of Williams syndrome
including stellate irises |
4r | Blepharoptosis, colobomatous microphthalmia |
5p– (Cri du Chat syndrome) | Colobomatous microphthalmia, cataract, optic atrophy, tortuous
retinal vessels, ocular dermoid, decreased tears, epicanthus, congenital glaucoma,
strabismus, myopia, upward or downward slanting of the lid fissures,
hypotelorism or hypertelorism, telecanthus, absence of eyebrows,
foveal hypoplasia |
5q– | Blepharoptosis, strabismus |
6p– | Hypertelorism, downward slanting of the lid fissures, epicanthus,
Peters anomaly, microphthalmia, strabismus |
6q– | Upward slanting and/or narrowing of the lid fissures,
epicanthus |
6r | Hypertelorism, epicanthus, downward slanting of the palpebral
fissures, strabismus, blepharoptosis, microcornea or megalocornea,
posterior embryotoxon, Reiger anomaly, aniridia, glaucoma, optic
atrophy, albinoid fundi, nystagmus, colobomatous, microphthalmia |
7p– | Hypertelorism, exophthalmos |
7q– | Epicanthus, hypertelorism, upward slanting of the lid fissures,
synophrys, strabismus, glaucoma, colobomatous microphthalmia, optic
atrophy, bilateral anophthalmia associated with interstitial deletion
of q21.1 to q36.1 |
8p– | Hypertelorism, epicanthus, down slanting of the lid fissures,
strabismus, nystagmus |
9p– | Upward or downward slanting of the lid fissures, epicanthus,
exophthalmos, arched eyebrows, hypertelorism, strabismus |
10p– | Congenital glaucoma, hypertelorism, down slanting and/or
narrowing of the lid fissures, epicanthus, strabismus, blepharoptosis, corneal
opacities |
10q– | Hypertelorism, upward or downward slanting of the lid fissures,
scant eyelashes, strabismus, colobomatous microphthalmia |
11p– | Aniridia, cataract, strabismus, congenital glaucoma, macular
hypoplasia |
11q– | Epicanthus, blepharoptosis, Peters anomaly, hypertelorism,
strabismus, colobomatous microphthalmia, cyclopia, retinal dysplasia,
upward or downward slanting of the lid fissures |
11r | Hypertelorism, epicanthus, upward or downward slanting of
the lid fissures, blepharoptosis, microcornea, anterior segment
dysgenesis, stellate pattern of the iris, strabismus |
12p– | Hypertelorism, downward slanting of the lid fissures, sclerocornea,
synophrys, strabismus, optic atrophy, |
12r | Strabismus |
13q– | Cataract, retinoblastoma, blepharoptosis, upward or downward
slanting and/or narrow lid fissures, epicanthus, hypertelorism, Rieger
syndrome, colobomatous microphthalmia, optic nerve hypoplasia, strabismus |
13r | Same findings as 13q– |
14q– | Epicanthus, narrow lid fissures, blepharoptosis, glaucoma,
strabismus |
14r | Hypertelorism, epicanthus, downward slanting of the lid fissures,
retinal pigment epithelial disturbance |
15q– (Angelman and Prader-Willi syndromes) | Ocular albinism, strabismus, hypertelorism |
15r | Hypertelorism, nystagmus, strabismus, retinal depigmentation |
16q– | Upward or downward slanting of the lid fissures, hypertelorism,
epicanthus, strabismus |
17p– (Miller-Dieker syndrome) | Upward or downward slanting of the lid fissures, epicanthus,
Brushfield spots of the iris, colobomatous microphthalmia, synophrys,
strabismus |
17r | Retinal flecks, subretinal drusen-like deposits |
18p– | Colobomatous microphthalmia, cyclopia, synophthalmia, strabismus,
blepharoptosis, epicanthus, hypertelorism, retinal dysplasia |
18q– | Epicanthus, hypertelorism, downward slanting of the lid fissures,
corneal abnormalities, cataracts, blue sclerae, dysplastic or hypotrophic
optic nerve heads, strabismus, colobomatous microphthalmia |
18r | Microphthalmia with cyst |
19p– | Hypertelorism, persistent hyperplastic primary vitreous |
20p– | Epicanthus, hypertelorism, downward slanting of the lid fissures,
iris colobomas, Rieger syndrome, strabismus |
21r | Upward or downward slanting of the lid fissures, anterior
segment dysgenesis |
Monosomy 21 | Epicanthus, downward slanting of the lid fissures, Peters
anomaly, cataract, microphthalmia |
22q– (DiGeorge syndrome) | Hypertelorism, upward or downward slanting of the lid fissures |
22r | Epicanthus, upward or downward slanting of the lid fissures,
strabismus, synophrys, proptosis |
Monosomy 22 | Epicanthus, hypertelorism, upward slanting of the lid fissures,
blepharoptosis |
Sex Chromosome Syndromes |
Klinefelter syndrome (XXY, XXXY, XXXXY) | Hypertelorism, epicanthus, upward slant of the lid fissures,
strabismus, Brushfield spots, myopia, choroidal atrophy, colobomatous
microphthalmia |
Turner syndrome (45, X), mosaic variants | Blepharoptosis, strabismus, color blindness, cataracts, epicanthus,
blue sclera, nystagmus, hypertelorism |