Duplication Syndromes |
1q+ | Narrow horizontal lid fissures, synophrys, coloboma, microphthalmia |
2p+ | Hypertelorism, epicanthus, strabismus, narrow palpebral fissures, ptosis, blepharophimosis, nasolacrimal duct obstruction, coloboma, microphthalmia, congenital glaucoma, persistent fetal vasculature, optic atrophy, optic nerve hypoplasia |
2q+ | Epicanthus, hypertelorism, upward or downward slanting of the lid fissures, blepharitis, microcornea, congenital glaucoma, ectopia lentis, macular hypoplasia, nystagmus, coloboma, microphthalmia |
3p+ | Hypertelorism, epicanthus, microphthalmia, cyclopia |
3q+ | Hypertelorism, epicanthus, corneal opacities, coloboma, microphthalmia, synophrys, strabismus, cataract, infantile glaucoma, nystagmus |
4p+ | Microphthalmia, strabismus, downward slanting of the lid fissures, hypertelorism, coloboma, blepharophimosis, epicanthus, deep set eyes, “bushy” eyelashes, strabismus, nystagmus |
4q+ | Coloboma, microphthalmia, downward slanting of the lid fissures, epicanthus, blepharophimosis, ptosis, corneal clouding |
5p+ | Hypertelorism, epicanthus, upward slanting of the lid fissures, strabismus, cataracts, nystagmus, coloboma, microphthalmia |
5q+ | Epicanthus, hypertelorism, strabismus |
6p+ | Hypertelorism, long lashes, ptosis and blepharophimosis, strabismus, optic atrophy, microphthalmia |
6q+ | Downward slanting of the lid fissures, epicanthus, hypertelorism, ptosis, 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, exophthalmos, long lashes, optic nerve hypoplasia, coloboma, microphthalmia |
Trisomy 8 | Downward slanting of the lid fissures, hypertelorism, ptosis, strabismus, corneal opacities, coloboma, microphthalmia |
8p+ | Hypertelorism, upward slanting of the lid fissures |
8q+ | Hypertelorism, upward slanting of the lid fissures, coloboma, 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, ptosis, microphthalmia, enophthalmos |
10p+ | Hypertelorism, upward slanting of the lid fissures, long eyelashes, microphthalmia, coloboma |
10q+ | Epicanthus, hypertelorism, cataract, ptosis, 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 of iris |
12q+ | Epicanthus, hypertelorism, upward slanting and/or narrowing of the lid fissures, heavy eyebrows |
Trisomy 13 (Patau syndrome) | Coloboma, microphthalmia, clinical anophthalmia, cyclopia, microcornea, congenital glaucoma, corneal opacities, cataract, optic nerve hypoplasia, optic atrophy, persistent fetal vasculature, retinal dysplasia, strabismus, intraocular cartilage |
13q+ | Hypertelorism or hypotelorism, upward or downward slant of the eyelids, ptosis, synophrys, strabismus, coloboma, long thick upturned lashes, coloboma, microphthalmia |
Trisomy 14 | Hypotelorism or hypertelorism, downward slanting of the lid fissures, ptosis, enophthalmos, ectropion, microphthalmia |
14q+ | Hypotelorism or hypertelorism, downward slanting of the lid fissures, ptosis or blepharophimosis, microphthalmia, congenital glaucoma, strabismus |
15q+ | Downward slanting of the lid fissures, epicanthus, strabismus, ptosis, cataract, retinal detachment, enophthalmos, microphthalmia |
16p+ | Hypertelorism, sparse eyelashes, ptosis, 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, ptosis, microphthalmia |
17q+ | Hypertelorism, narrow lid fissures |
Trisomy 18 (Edwards syndrome) | Epicanthus, hypertelorism, hypoplastic supraorbital ridges, corneal opacities, infantile glaucoma, microphthalmia, cataract, coloboma, microphthalmia, retinal depigmentation, cyclopia |
18p+ | Hypotelorism, downward slanting of the lid fissures, strabismus |
18q+ | Epicanthus, ptosis, synophrys, enophthalmos, hypertelorism, upward slanting of the lid fissures |
19q+ (de Grouchy syndrome) | Hypertelorism, downward slanting of the lid fissures, ptosis |
20p+ | Epicanthus, hypertelorism, upward or downward slanting of the lid fissures, Axenfeld-Rieger spectrum, enophthalmos, coloboma 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 branching on optic nerve, optic nerve hypoplasia, ectropion, blepharitis |
Trisomy 22 | Hypertelorism, ptosis, upward or downward slanting of the lid fissures, epicanthus, optic nerve hypoplasia, cataract, synophrys, strabismus, coloboma, microphthalmia, persistent fetal vasculature |
22q+ (cat-eye syndrome) | Coloboma, microphthalmia, ptosis, hypertelorism, downward slanting of the lid fissures, strabismus |
Triploidy | Coloboma, microphthalmia, hypertelorism, cataracts, glaucoma |
Deletion Syndromes |
1q– | Upward and downward slanting lid fissures, epicanthus, hypertelorism, ptosis, strabismus, synophrys, microphthalmia |
2q– | Downward slanting lid fissures, narrow lid fissures, epicanthus, thick eyebrows and lashes, ptosis, blepharophimosis, corneal opacities, cataract, optic nerve hypoplasia, nystagmus, coloboma, microphthalmia |
3p– | Hypertelorism, epicanthus, downward slanting lid fissures and narrow lid fissures, synophrys, ptosis, optic atrophy |
3q– | Narrow lid fissures, epicanthus, ptosis, cataract, strabismus, coloboma, microphthalmia |
4p– (Wolf-Hirschhorn syndrome) | Corectopia, Peters anomaly, Axenfeld-Rieger spectrum, coloboma, microphthalmia, strabismus, download slanting of the lid fissures, ptosis, 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, coloboma, microphthalmia |
5p– (Cri du chat syndrome) | Coloboma, microphthalmia, cataract, optic atrophy, tortuous retinal vessels, 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– | Ptosis, 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, ptosis, microcornea or megalocornea, posterior embryotoxon, Axenfeld-Reiger spectrum, aniridia, glaucoma, optic atrophy, nystagmus, coloboma, microphthalmia |
7p– | Hypertelorism, exophthalmos |
7q– | Epicanthus, hypertelorism, upward slanting of the lid fissures, synophrys, strabismus, glaucoma, coloboma, microphthalmia, optic atrophy |
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, downslanting and/or narrowing of the lid fissures, epicanthus, strabismus, ptosis, corneal opacities |
10q– | Hypertelorism, upward or downward slanting of the lid fissures, scant eyelashes, strabismus, coloboma, microphthalmia |
11p– | Aniridia, cataract, strabismus, glaucoma, macular hypoplasia |
11q– | Epicanthus, ptosis, Peters anomaly, hypertelorism, strabismus, coloboma, microphthalmia, cyclopia, retinal dysplasia, upward or downward slanting of the lid fissures |
11r | Hypertelorism, epicanthus, upward or downward slanting of the lid fissures, ptosis, 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, ptosis, upward or downward slanting and/or narrow lid fissures, epicanthus, hypertelorism, Axenfeld-Rieger spectrum, coloboma, microphthalmia, optic nerve hypoplasia, strabismus |
13r | Same findings as 13q– |
14q– | Epicanthus, narrow lid fissures, ptosis, glaucoma, strabismus |
14r | Hypertelorism, epicanthus, downward slanting of the lid fissures, retinal pigment epithelial disease |
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, coloboma, microphthalmia, synophrys, strabismus |
17r | Retinal flecks |
18p– | Coloboma, microphthalmia, cyclopia, synophthalmia, strabismus, ptosis, epicanthus, hypertelorism, retinal dysplasia |
18q– | Epicanthus, hypertelorism, downward slanting of the lid fissures, corneal abnormalities, cataracts, blue sclerae, optic nerve dysplasia or hypoplasia, strabismus, coloboma, microphthalmia |
18r | Microphthalmia with cyst |
19p– | Hypertelorism, persistent fetal vasculature |
20p– | Epicanthus, hypertelorism, downward slanting of the lid fissures, iris coloboma, Axenfeld-Rieger spectrum, 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, ptosis |
Sex Chromosome Syndromes |
Klinefelter syndrome (XXY) | Hypertelorism, epicanthus, upward slant of the lid fissures, strabismus, myopia, choroidal atrophy, rare colobomatous microphthalmia/anterior segment dysgenesis |
Turner syndrome (45,X), mosaic variants | Ptosis, strabismus, color blindness, cataracts, epicanthus, blue sclera, nystagmus, hypertelorism |