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Diseases

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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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for TARP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Arteriovenous malformation 90%
Cleft palate 90%
Defect in the atrial septum 90%
Glossoptosis 90%
Micrognathia 90%
Cryptorchidism 50%
Low-set, posteriorly rotated ears 50%
Optic atrophy 5%
Postaxial polydactyly 5%
Short sternum 5%
Tetralogy of Fallot 5%
Tongue nodules 5%
Abnormality of the corpus callosum -
Anteverted nares -
Cerebellar hypoplasia -
Cerebellar vermis hypoplasia -
Clinodactyly -
Cutaneous syndactyly -
Deep palmar crease -
Failure to thrive -
High palate -
Horseshoe kidney -
Hydronephrosis -
Hypoplasia of the radius -
Intrauterine growth retardation -
Large fontanelles -
Low-set ears -
Microtia -
Muscular hypotonia -
Posteriorly rotated ears -
Prominent antihelix -
Short palpebral fissure -
Single transverse palmar crease -
Talipes equinovarus -
Underdeveloped supraorbital ridges -
Wide nasal bridge -
X-linked inheritance -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183328/. Accessed 12/5/2013.


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.