Table of Contents

Main Features
Eye Findings
Other Findings
Etiology
Resources

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

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.