The TARP findings for which the syndrome is named are not universally present, and other manifestations not encompassed in the acronym often are. Prenatal findings may include increased nuchal translucency, IUGR, and cardiac, CNS, or kidney anomalies. Individuals born prematurely or with severe heart or lung disease (e.g. pulmonary hypoplasia) may experience prolonged NICU stays and benefit from supplemental oxygen. Failure to thrive is common and feeding tube placement may help with weight gain. Some individuals come to medical attention when they do not pass newborn hearing screening, though this can be due to either otitis media with effusion (which often resolves) or to sensorineural hearing loss. Global neurodevelopmental delay appears to be a consistent finding but is variable in degree. CNS anomalies commonly involve the cerebellum and less commonly corticovisual impairment. Cranial nerve anomalies including optic nerve atrophy have been described in a few patients, and congenital cataracts in one patient. Cardiac anomalies described in TARP syndrome patients include atrial septal defect, ventricular septal defect, tetralogy of Fallot, persistence of the left superior vena cava, absence of the right superior vena cava, hypertrophic obstructive cardiomyopathy, aortic coarcatation, aortic root dilation, bicuscpid aortic valve, and an older patient presented with recurrent episodes of atrial flutter. Gastrointestinal anomalies include Morgani diaphragmatic hernia, duodenal tortuosity, pancreatic insufficiency, Meckel’s diverticulum, extramedullary hepatic hematopoiesis, bowel malrotation/volvulus, and imperforate anus. Genitourinary anomalies include hydronephrosis, kidney pelviectasis, cystic renal aplasia, horseshoe kidney, epispadias, and cryptorchidism. Distal limb anomalies include talipes equinovarus, plano valgus flexible feet, aplasia of the first digits (fingers/toes), overriding fingers, and single palmar crease. Other minor anomalies such as sacral dimples and persistent fetal pads have also been observed. Non-familial facial features are often present and evolve with age, but in infancy affected boys often have round faces, micrognathia, downturned corners of the mouth, small/posteriorly rotated ears, and temporal/parietal prominence.
RBM10