Name = TAR Syndrome
with Absent Radius)
DiseasesDB = 29769
ICD10 = ICD10|Q|87|2|q|80
ICD9 = ICD9|287.33
OMIM = 274000
TAR Syndrome (
Thrombocytopeniawith Absent radius) is a rare genetic disorderwhich is characterized by the absence of the radius bone in the forearm, and a dramatically reduced plateletcount. Symptoms of thrombocytopenia, or a lowered platelet count, leads to bruisingand potentially life-threatening hemorrhage.
Other common links between people with TAR seem to include
heartproblems, kidneyproblems, knee joint problems and frequently lactose intolerance.
Treatments range from platelet transfusions through to surgery aimed at 'normalizing' the appearance of the arm, which is much shorter and 'clubbed.' There is some controversy surrounding the role of surgery. The infant mortality rate has been curbed by new technology, including platelet transfusions, which can even be performed
in utero. The critical period is the first year of life. For most people with TAR, platelet counts improve as they grow out of childhood.
Genetic research is underway. A 2007 research article identified a region of
chromosome1, 1q21.1, containing 11 genes, that is mutated in thirty of thirty patients with TAR. [cite journal |author=Klopocki E, Schulze H, Strauss G, "et al" |title=Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome |journal=Am. J. Hum. Genet. |volume=80 |issue=2 |pages=232–40 |year=2007 |pmid=17236129 |pmc=1785342 |doi=10.1086/510919 |url=] This mutation was also found in 32% of unaffected family members, so there are likely other genetic components of the syndrome besides this one, hence when a child has the condition any future siblings are likely to have a 25% chance of also having it.
The Internet is proving to be a valuable gathering place for people with TAR, who have until now often felt isolated by the rarity of the condition. The incidence is 0.42 per 100,000 live births.
TAR was first identified in 1956, and was named almost thirteen years later when severe bruising (along with abnormally short forearms) was present in three families with nine newborns.
Notes and references
Wikimedia Foundation. 2010.
Look at other dictionaries:
TAR syndrome — TAR stands for Thrombocytopenia (low blood platelets) and Aplasia (absence) of the Radius (the long bone on the thumb side of the forearm), features characterizing this syndrome. There is phocomelia (flipper limb) with the thumbs always present.… … Medical dictionary
TAR — Cette page d’homonymie répertorie les différents sujets et articles partageant un même nom. Pour l’article homophone, voir Tare … Wikipédia en Français
Tar (homonymie) — Tar Cette page d’homonymie répertorie les différents sujets et articles partageant un même nom. Pour l’article homophone, voir Tare … Wikipédia en Français
Tar (disambiguation) — Tar may refer to:* Tar, a viscous organic black liquid * Tar (tobacco residue), the partially combusted particulate matter produced by smoking * Tar (band), a 90s indie rock band * Tar (drum), a drum from North Africa and the Middle East * tar… … Wikipedia
Tar — Cette page d’homonymie répertorie les différents sujets et articles partageant un même nom. Pour l’article homophone, voir Tare. Sur les autres projets Wikimedia … Wikipédia en Français
Syndrome TAR — Référence MIM 274000 Chromosome Chromosome 1 q21.1 Empreinte parentale Non Mutation Sans objet Nombre d allèles pathologiques … Wikipédia en Français
Syndrome, TAR — TAR stands for Thrombocytopenia (low blood platelets) and Aplasia (absence) of the Radius (the long bone on the thumb side of the forearm), features characterizing this syndrome. There is phocomelia (flipper limb) with the thumbs always present.… … Medical dictionary
Syndrome de townes-brocks — Autre nom Syndrome REAR Référence MIM … Wikipédia en Français
Syndrome de Townes-Brocks — Référence MIM 107480 Transmission Dominante Chromosome 16q12.1 Gène SALL1 Empreinte parentale Non … Wikipédia en Français
TAR-Syndrom — Das TAR Syndrom (nach engl. Thrombocytopenia Absent Radius Syndrome), auch Radiusaplasie Thrombozytopenie Syndrom, ist ein erbliches Fehlbildungssyndrom mit typischerweise beidseits fehlender Speiche (Radius) bei vorhandenem Daumen, und… … Deutsch Wikipedia