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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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What are the signs and symptoms of TARP syndrome?

TARP is an acronym for the 4 main features that were present in individuals originally diagnosed with TARP syndrome: More recently, some affected individuals (confirmed by genetic testing) have been described having a more diverse range of signs and symptoms. Two boys from one family with TARP syndrome were born without clubfoot, but had additional features including polydactyly (additional fingers and/or toes); cutaneous syndactyly (webbing of the skin between the fingers and/or toes); and masses on the underside of the tongue (sublingual tongue masses). An individual in another family had only one of the 4 main features. An individual in a third family had only 2 of the 4 features of TARP.[1]

Additional abnormalities that have been reported in the medical literature in affected individuals include failure to thrive; abnormal skull shape; round face; short palpebral fissures (decreased width of each eye); small or abnormally-shaped ears; poor muscle tone (hypotonia); developmental delay; eye or visual abnormalities; hearing loss; airway or lung abnormalities; undescended testicles (cryptorchidism); structural brain abnormalities; and intellectual disability.[1][2]

Most affected males have died before birth or shortly after birth. However, in 2011 there was a report of an affected individual who was 3 years, 7 months old and was surviving with intensive medical care. The authors of this report concluded that long-term survival is possible for individuals with TARP syndrome and that older affected individuals may exist.[2]
Last updated: 12/5/2013

  1. Johnston JJ. et. al. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. November 20, 2013; Epub ahead of print:Accessed 12/5/2013.
  2. Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. October 2011; 155A(10):2516-2520. Accessed 12/5/2013.