TAR syndrome: Difference between revisions

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List of terms related to TAR syndrome

	TAR syndrome (Thrombocytopenia with Absent Radius);
ICD-10	Q87.2
ICD-9	755.26
OMIM	27400

VisualWikitext

Latest revision as of 17:10, 17 October 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

TAR Syndrome (Thrombocytopenia with Absent radius) is a rare genetic disorder which is characterized by the absence of the radius bone in the forearm, and a dramatically reduced platelet count.

Historical Perspective

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.

Pathophysiology

Genetics

A region of chromosome 1, 1q21.1, containing 11 genes, is mutated in thirty of thirty patients with TAR.^[1] 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.

Associated Conditions

Other common links between people with TAR seem to include heart problems such as secundum atrial septal defect, kidney problems, knee joint problems and frequently lactose intolerance.

Epidemiology and Demographics

The incidence is 0.42 per 100,000 live births.

Natural History, Complications and Prognosis

The critical period is the first year of life. For most people with TAR, platelet counts improve as they grow out of childhood.

Diagnosis

Symptoms

Symptoms of thrombocytopenia, or a lowered platelet count, leads to bruising and potentially life-threatening haemorrhage.

Treatment

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.

References

↑ Klopocki, E.; Schulze, H.; Strauss, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M.; Habenicht, R.; Konig, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Horn, D.; Mundlos, S. : Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80: 232-240, 2007.

External links

UK support group including personal stories and medical information

de:TAR-Syndrom

Template:WikiDoc Sources

[1] Klopocki, E.; Schulze, H.; Strauss, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M.; Habenicht, R.; Konig, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Horn, D.; Mundlos, S. : Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80: 232-240, 2007.

[1]

@@ Line 16: / Line 16: @@
 {{CMG}}
+==Overview==
+'''TAR Syndrome''' ([[Thrombocytopenia]] with [[Absent radius]]) is a rare [[genetic disorder]] which is characterized by the absence of the [[Human_skeleton|radius bone]] in the forearm, and a dramatically reduced [[platelet]] count.
+==Historical Perspective==
+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.
-'''TAR Syndrome''' ([[Thrombocytopenia]] with [[Absent radius]]) is a rare [[genetic disorder]] which is characterized by the absence of the [[Human_skeleton|radius bone]] in the forearm, and a dramatically reduced [[platelet]] count.  Symptoms of [[thrombocytopenia]], or a lowered platelet count, leads to [[bruising]] and potentially life-threatening [[haemorrhage]].
+==Pathophysiology==
+===Genetics===
+A region of [[chromosome]] 1, 1q21.1, containing 11 [[genes]], is mutated in thirty of thirty patients with TAR.<ref>Klopocki, E.; Schulze, H.; Strauss, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M.; Habenicht, R.; Konig, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Horn, D.; Mundlos, S. : Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80: 232-240, 2007.</ref>   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.
+===Associated Conditions===
+Other common links between people with TAR seem to include [[heart]] problems such as [[secundum atrial septal defect]], [[kidney]] problems, knee joint problems and frequently [[lactose intolerance]].
-Other common links between people with TAR seem to include [[heart]] problems, [[kidney]] problems, knee joint problems and frequently [[lactose intolerance]].
+==Epidemiology and Demographics==
+The incidence is 0.42 per 100,000 live births.
-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.
+==Natural History, Complications and Prognosis==
+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 [[chromosome]] 1, 1q21.1, containing 11 [[genes]], that is mutated in thirty of thirty patients with TAR.<ref>Klopocki, E.; Schulze, H.; Strauss, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M.; Habenicht, R.; Konig, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Horn, D.; Mundlos, S. : Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80: 232-240, 2007.</ref>   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.
+==Diagnosis==
+===Symptoms===
+Symptoms of [[thrombocytopenia]], or a lowered platelet count, leads to [[bruising]] and potentially life-threatening [[haemorrhage]].
-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.
+==Treatment==
+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]].
-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==
+==References==
-<!--This article uses the Cite.php citation mechanism. If you would like more information on how to add references to this article, please see http://meta.wikimedia.org/wiki/Cite/Cite.php -->
+{{Reflist|2}}
-<div class="references-small">
-<references/>
-</div>
 ==External links==
-===Online Groups===
 *[http://www.ivh.se/TAR/ UK support group including personal stories and medical information]
-*[http://health.groups.yahoo.com/group/TarSupport/ Yahoo! groups - TarSupport]
 [[Category:Genetic_disorders]]