Cerebrooculonasal syndrome

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormally shaped nose with bilateral proboscis-like nares, bilateral microphthalmia/anophthalmia (exceptionally may be missing in some patients), central nervous system anomalies, neurodevelopmental delay and intellectual disability. Majority of the patients present with brachycephaly/macrobrachycephaly and facial dysmorphism including large forehead, flat supraorbital ridges, sparse and medially absent eyebrows, sparse eyelashes, hypertelorism, telecanthus, epicanthic folds, downslanting palpebral fissures, malar hypoplasia, posteriorly rotated ears with a hypoplastic tragus and large conchae, large philtrum, high-arched and narrow palate, atypical cleft lip and single maxillary central incisor. Additional clinical features may involve bilateral frontal encephalocele, postaxial polydactyly, genital hypoplasia, cryptorchidism.