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TARP syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.
Mondo Term and Equivalent IDs
MONDO:0010711:  TARP syndrome
DOID:0111780: 
GARD:0010089: 
MESH:C536942: 
Orphanet:2886: 
SCTID:725911008: 
UMLS:C1839463: