It is a genetic disorder that affects mainly males and characterized by ocular anomalies (eg, microphthalmos), microencephaly, mental retardation, agenesis of the corpus callosum, and urogenital anomalies. This medical condition is lethal in infancy.
The first report described four related males in 1985 by Duker et al.
The exact incidence remains unknown. There are only few cases reported in the literature.
It is believed inherited as X-linked recessive transmission.
Diagnosis is clinical, based mostly on the ocular findings and on imaging studies confirming absence of the corpus callosum. Affected individuals present complicated ocular anomalies such as microphthalmos, corneal hypoplasia and pannus, cataracts, uveal and optic nerve hypoplasia, retinal dysplasia, and congenital blepharoptosis and swollen eyelids. Other consistent findings are microcephaly, agenesis of the corpus callosum, mental retardation, hypospadias, and cryptorchidism. The condition is lethal in infancy or early childhood.
Because patients with this syndrome are mentally delayed and almost blind, obtaining their cooperation may be difficult. Sedative and anxiolytic premedication and the presence of the primary caregiver during induction of the anesthesia may be helpful.
Other conditions to be considered
☞Lenz Syndrome: Very rare disorder with multiple anomalies, such as neurologic, craniofacial, ocular, skeletal, and urogenital findings.
Cerebro-Oculo-Nasal Syndrome: Characterized by anophthalmia, abnormal nares, central nervous system anomalies, and mental retardation. Other clinical features include brachycephaly, wide forehead, bilateral frontal encephalocele, malar hypoplasia, hypertelorism, bilateral anophthalmia, cleft lip/palate, and cryptorchidism. Some of these features make it difficult to differentiate from the Cerebro-Oculo-Genital Syndrome. The female to male sex ratio has been established at 12:8 and the mode of transmission is suspected to be sporadic mutation, no consanguinity.
Cerebro-Oculo-Facio-Skeletal Syndrome (Cerebrooculofacioskeletal Syndrome; Cockayne Syndrome Type II; Pena-Shokeir II Syndrome; Pena-Shokeir Syndrome Type II; COFS Syndrome): Characterized by craniofacial features that include microcephaly, micrognathia, unusually prominent nose, microphthalmia, cataract, and blepharophimosis. This medical condition was first described in 1974.
et al: Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. Am J Ophthalmol
ML: Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause. Am J Med Genet