Table 1 Chromosomal abnormalities associated with anophthalmia/microphthalmia [55,7].

Duplication 3q syndrome (3q21-ter dup)

Learning difficulties, growth deficiency, hypertrichosis, craniosynostosis, cardiac defects, chest deformities, genital abnormalities, umbilical hernia

4p- (Wolf-Hirschhorn syndrome)

Growth deficiency, microcephaly, ocular hypertelorism, cranial asymmetry, learning difficulties, epilepsy, cleft lip/palate, anterior segment dysgenesis

Duplication 4p syndrome

Learning difficulties, epilepsy, growth deficiency, obesity, microcephaly, characteristic faces, genital abnormalities, kyphoscoliosis

Deletion 7p15.1-p21.1

Cryptophthalmos, cleft lip/palate, choanal atresia

Trisomy 9 mosaic syndrome

Joint contractures, congenital heart defects, prenatal growth deficiency, learning difficulties, micrognathia, kyphoscoliosis

Duplication 10q syndrome

Ptosis, short palpebral fissures, camptodactyly, learning difficulties, prenatal growth deficiency, microcephaly, heart and kidney malformations

13q-, 13 ring

Microcephaly, learning difficulties, bilateral retinoblastoma, cardiac defects, hypospadias, cryptorchidism

Trisomy 13 (Patau syndrome)

Holoprosencephaly, moderate microcephaly, coloboma, retinal dysplasia, cyclopia, cleft lip/palate, cardiac defects, genital abnormalities, 86% die within one year.

Deletion 14q22.1-q23.2

Pituitary hypoplasia.

18q-

Midface hypoplasia, small stature, learning difficulties, hypotonia, nystagmus, conductive deafness, microcephaly, midface hypoplasia, genital abnormalities

Trisomy 18 (Edwards syndrome)

Polyhydramnios, single umbilical artery, small placenta, low foetal activity, learning difficulties, hypertonicity, hypoplasia of skeletal muscle, subcutaneous, adipose tissue, prominent occiput, low-set malformed auricles, micrognathia, cardiac defects

Triploidy syndrome

Large placenta with hydatidiform changes, growth deficiency, syndactyly, congenital heart defects, brain anomalies/holoprosencephaly