Toriello–Carey syndrome is a genetic disorder that is characterized by Pierre Robin sequence and agenesis of the corpus callosum.
Children have hypertelorism or telecanthus, small nose, short or sparse eyelashes, oral anomalies (such as cleft palate, Pierre Robin sequence, and micrognathism), abnormal ears, and a short neck.
Neurological abnormalities include defects of the corpus callosum, hypotonia, and hearing loss.
Genetic analysis of these patients suggests Toriello–Carey syndrome is a heterogeneous disorder.
[5] In patients without genetic anomalies, the basis for the disorder is undetermined.