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TARP syndrome

Disease definition

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.

ORPHA:2886

  • Synonym(s):
    • 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
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 311900
  • UMLS: C1839463
  • MeSH: C536942
  • GARD: 10089
  • MedDRA: -
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