/TARP syndrome

TARP syndrome

Rare Disease

MONDO:0010711

Also Known As

Pierre Robin sequence-congenital heart defect-talipes syndromePierre Robin syndrome-congenital heart defect-talipes syndromeTARP syndrome, X-linked recessivetalipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrometarp syndromePierre Robin sequence - congenital heart defect - talipesPierre Robin syndrome - congenital heart defect - talipesPierre Robin syndrome with congenital heart malformation and clubfootTARPStalipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cavatalipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava

Definition

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.