Abstract
<jats:title>Abstract</jats:title> <jats:p>This chapter provides pictures and clinical details of TARP syndrome, an XLID with talipes equinovarus, atrial septal defects, persistence of the left superior vena cava, optic atrophy, hearing loss, Robin sequence, structural brain anomalies, cardiac rhythm disturbance, hypotonia, and early lethality. Mutations have been found in RBM10, which encodes an RNA binding motif protein. Structural changes are widespread, involving the brain, face, heart, great vessels, and limbs. Facial manifestations include optic atrophy, upslanted palpebral fissures, low-set and retroverted ears, micrognathia, and cleft palate. Dysgenesis of the corpus callosum and caudate, cerebellar hypoplasia, and mega cisterna magna have been described. Atrial septal defect is the usual cardiac malformation and may be linked functionally with cardiac arrhythmias. Persistence of the left superior vena cava, talipes equinovarus, and cryptorchidism occur in the majority of cases.</jats:p>