TARP syndrome

Main Features

  • Initially described as T=Talipes equinovarus; A = Atrial Septal Defect; R = Robin Sequence; P= Persistent left superior vena cava
  • Further investigation reveled the following major findings
    • Developmental Delay
    • Failure to thrive
    • Respiratory insufficiency
    • Brain Malformations
    • Facial Dysmorphism
    • Cardiac Malformations
    • Limb abormalities

Eye Findings

  • Optic nerve hypoplasia (56%)
  • Cortical visual impairment
  • Hypertelorism

Other Findings

  • From Kumps et al. 2021

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

  1. Kumps C. et al. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. Clinical Genetics 2021;99:449-456.