X-vázaně recesivní
Caused by changes that stop the RBM10 gene, on the X chromosome, from working. RBM10 regulates the splicing of gene transcripts. Boys are affected, and mothers can be unaffected carriers.
Příznaky a projevy
TARP stands for talipes (clubfoot), atrial septal defect, Robin sequence (small jaw, cleft palate and tongue falling back) and persistent left superior vena cava. Feeding problems in infancy have been reported, and the condition carries a poor prognosis, with some children dying in early life. Central nervous system dysfunction, renal abnormalities and other cardiac lesions have also been reported.
Co se diagnózou změní
Care focuses on airway, feeding and heart management, with orthopaedic and cleft treatment and developmental support. Female relatives can have carrier testing, and genetic counselling is recommended.
Analyzované geny
Známé také jako
Pierre Robin sequence - congenital heart defect - talipes; Pierre Robin sequence-congenital heart defect-talipes syndrome; Pierre Robin syndrome - congenital heart defect - talipes; Pierre Robin syndrome-congenital heart defect-talipes syndrome; talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; TARP syndrome, X-linked recessive; TARPS
