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Genetic and Rare Diseases Information Center (GARD)

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TARP syndrome

Other Names for this Disease
  • Pierre Robin syndrome with congenital heart malformation and clubfoot
  • Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava
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How is TARP syndrome inherited?

TARP syndrome is inherited in an X-linked recessive manner. This means that the mutated gene responsible for TARP syndrome (RBM10) is located on the X chromosome, and typically only affects males. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. If a female has one mutated copy of RBM10 and one normal copy, she would typically be an unaffected carrier of this condition. Occasionally, female carriers of an X-linked recessive condition may have varying degrees of signs or symptoms of the condition; this is due to differences in X chromosome inactivation.

When a female carrier of an X-linked condition has children, each daughter has a 50% (1 in 2) risk to also be a carrier, and a 50% risk to not be a carrier (and have 2 normal copies of the gene). Each son has a 50% risk to be affected and a 50% risk to be unaffected.
Last updated: 12/9/2013