Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== 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==== {{::tarp_syndrome.png?600| }} * 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==== - [[https://1drv.ms/b/c/31d83ae8e55e0542/EW8YFXEcDANOieZakeZMU1MBayRLkdEKN9sGCofnA6lY8w?e=c97hIn |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.]] {{tag>syndrome}} syndrome