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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
  • TARPS
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Overview


TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The Robin sequence (also known as Pierre Robin’s sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. A high-arched, cleft soft palate is also commonly seen.[1] Affected individuals also have persistent left superior vena cava. TARP syndrome has been reported to cause death before birth or soon after birth. This condition is caused by mutations in the RBM10 gene and is inherited in an X-linked recessive fashion.[2]
Last updated: 12/9/2013

References

  1. Campbell, RM. Femoral Hypoplasia-Unusual Facies Syndrome, NORD Guide to Rare Disorders. Philadelphia: Lippincott Williams & Wilkins; 2003;
  2. Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK; NIH Intramural Sequencing Center (NISC), Chong K, Mullikin JC, Biesecker LG. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet. 2010; 86(5):743-748. http://www.ncbi.nlm.nih.gov/pubmed/20451169. Accessed 5/6/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss TARP syndrome. Click on the link to view a sample search on this topic.