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TARP syndrome

Main Features

  • T=Talipes equinovarus; A = Atrial Septal Defect; R = Robin Sequence; P= Persistent left superior vena cava
  • Developmental Delay (100%)
  • Failure to thrive (100%)
  • Respiratory insufficiency (90%)
  • Brain Malformations (100%)
    • Cerebellar/vermis hypoplasia

Eye Findings

Other Findings

Etiology

  • X-linked pathologic variants of RBM10 gene
  • RBM10 involved in RNA regular of hundred of genes through alternative splicing, transcription regulation and histone modification.
  • As of 2021- 24 patients in 13 families have been described in the literature

Resources