cerebrooculonasal syndrome

Cerebro-oculo-nasal syndrome is a rare multisystem malformation syndrome characterized by several distinct clinical features. The condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition to their offspring. Key clinical features include bilateral anophthalmia (absence of both eyes), abnormal nares, central nervous system anomalies, and significant neurodevelopmental delay. Other associated phenotypes may include broad forehead, proboscis, sparse eyebrows, hypertelorism, ventriculomegaly, optic nerve hypoplasia, postnatal growth retardation, and seizures. These features have been documented in approximately 10 known cases.

The clinical presentation of cerebrooculonasal syndrome includes several prominent features. All affected individuals exhibit a broad forehead, proboscis, sparse eyebrows, and global developmental delay. Other notable findings, occurring in 80-99% of cases, include hypertelorism, ventriculomegaly, optic nerve hypoplasia, and postnatal growth retardation. Additionally, seizures and cleft palate are present in 30-79% of cases. These features highlight the multisystem involvement and the significant impact on development and sensory functions.

The limited documentation surrounding cerebrooculonasal syndrome is primarily due to its extreme rarity, with fewer than 1 in 1,000,000 individuals affected. This rarity restricts the ability to conduct systematic clinical studies and gather comprehensive data. Additionally, the genetic basis of the condition remains unidentified, which complicates efforts to understand its underlying mechanisms and develop targeted interventions. As research continues, there is hope for better characterization and management strategies.