TARP syndrome

Disease Overview

TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The Robin sequence (also known as Pierre Robin’s sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. A high-arched, cleft soft palate is also commonly seen.[3418] Affected individuals also have persistent left superior vena cava. TARP syndrome has been reported to cause death before birth or soon after birth. This condition is caused by mutations in the RBM10 gene and is inherited in an X-linked recessive fashion.[3419]

Synonyms

• Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava
• TARPS
• Pierre Robin syndrome with congenital heart malformation and clubfoot
• Pierre Robin sequence - congenital heart defect - talipes
• Pierre Robin syndrome - congenital heart defect - talipes
• Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava
• 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