TAR syndrome

Jump to: navigation, search
TAR syndrome (Thrombocytopenia with Absent Radius)
ICD-10 Q87.2
ICD-9 755.26
OMIM 27400

WikiDoc Resources for TAR syndrome

Articles

Most recent articles on TAR syndrome

Most cited articles on TAR syndrome

Review articles on TAR syndrome

Articles on TAR syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on TAR syndrome

Images of TAR syndrome

Photos of TAR syndrome

Podcasts & MP3s on TAR syndrome

Videos on TAR syndrome

Evidence Based Medicine

Cochrane Collaboration on TAR syndrome

Bandolier on TAR syndrome

TRIP on TAR syndrome

Clinical Trials

Ongoing Trials on TAR syndrome at Clinical Trials.gov

Trial results on TAR syndrome

Clinical Trials on TAR syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on TAR syndrome

NICE Guidance on TAR syndrome

NHS PRODIGY Guidance

FDA on TAR syndrome

CDC on TAR syndrome

Books

Books on TAR syndrome

News

TAR syndrome in the news

Be alerted to news on TAR syndrome

News trends on TAR syndrome

Commentary

Blogs on TAR syndrome

Definitions

Definitions of TAR syndrome

Patient Resources / Community

Patient resources on TAR syndrome

Discussion groups on TAR syndrome

Patient Handouts on TAR syndrome

Directions to Hospitals Treating TAR syndrome

Risk calculators and risk factors for TAR syndrome

Healthcare Provider Resources

Symptoms of TAR syndrome

Causes & Risk Factors for TAR syndrome

Diagnostic studies for TAR syndrome

Treatment of TAR syndrome

Continuing Medical Education (CME)

CME Programs on TAR syndrome

International

TAR syndrome en Espanol

TAR syndrome en Francais

Business

TAR syndrome in the Marketplace

Patents on TAR syndrome

Experimental / Informatics

List of terms related to TAR syndrome

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

  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.

External links

de:TAR-Syndrom



Linked-in.jpg