| A multiple congenital anomaly syndrome with characteristics of craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. Main clinical signs include telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence, abnormally shaped ears, redundant neck skin and features of midline structural abnormalities with agenesis of corpus callosum, laryngeal anomalies and congenital heart defects. Short hands and hypotonia may also be observed. Patients have a moderate to severe intellectual disability. There is evidence that this is a heterogeneous condition, with chromosome anomalies identified in approximately 20%, and at least two candidate genes identified: MN1 (22q12.1) which has been reported in a microdeletion and SATB2 (2q33.1), interrupted by a de novo balanced translocation in another patient. |
