Moebius Syndrome (MBS) is a rare neurological disorder characterized by cranial nerve dysfunction, particularly the facial (cranial nerve VII) and abducens nerve (cranial nerve VI), resulting in facial palsy and impairment of ocular abduction. MBS is also associated with muscular deficits, limb anomalies, problems with speech, feeding and swallowing difficulties, brain abnormalities, intellectual disability, and developmental delay.
Due to the rarity of this condition, little is known regarding its pathogenesis and optimal treatment. Some familial cases have been reported and some genetic linkage studies have found sites of potential MBS genes, but no large-scale whole-exome or whole-genome studies have been completed to date.
Our team is determined to uncover the genetic causes of MBS and improve the lives of patients. We are not currently recruiting for this project, but please check back here or contact us for updates!