Toriello-Carey syndrome

Disease Overview

Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features, brain abnormalities, Pierre Robin sequence, swallowing difficulties, heart defects, low muscle tone (hypotonia), and moderate to severe intellectual disability.[13048] The genetic cause is not fully understood, but there is evidence it may be caused by mutations in one or more unidentified genes, or by a chromosome abnormality.[13048][13059] When it is not due to a chromosome abnormality, inheritance is thought to be autosomal recessive. Treatment focuses on the specific signs and symptoms in each person.[13048]

Synonyms

• Corpus callosum agenesis facial anomalies Robin sequence
• Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
• Agenesis of corpus callosum with facial anomalies and Robin sequence