Cerebrooculonasal syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 66625

Definition

Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.

Clinical description

Additional features include brachycephaly (the nose may have a proboscis-like appearance) and other facial anomalies such as large forehead, flat supraorbital ridges, ocular hypertelorism, epicanthic folds, downslanting palpebral fissures, sparse and medially absent eyebrows, sparse eyelashes, malar hypoplasia, large philtrum, high-arched palate possibly associated with atypical cleft lip and a single maxillary central incisor, posteriorly rotated ears with hypoplastic tragus and large conchae. Non facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia.

Antenatal diagnosis

No case of prenatal diagnosis has been reported.

Genetic counseling

All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.

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