TARP syndrome

Synonyms: Pierre Robin sequence-congenital heart defect-talipes syndrome | Pierre Robin syndrome-congenital heart defect-talipes syndrome | Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia glossoptosis and cleft palate) atrial septal defect persistence of the left superior vena cava and talipes equinovarus. The phenotype is variable some patients present with further dysmorphic characteristics (e.g. hypertelorism ear abnormalities) while others do not have any key findings. Additional features such as syndactyly polydactyly or brain anomalies (e.g. cerebellar hypoplasia) have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.