Extractions: (advertisement) Synonyms, Key Words, and Related Terms: TAR syndrome Background: Thrombocytopenia-absent radius (TAR) syndrome is a rare association of thrombocytopenia and bilateral radial aplasia first described in 1951. With some families having more than one member affected, an autosomal recessive inheritance pattern was proposed. TAR was defined as a syndrome in 1969 and further classified as the association of hypomegakaryocytic thrombocytopenia and absent radii. The expression varies and includes abnormalities in skeletal, gastrointestinal, hematologic, and cardiac systems. Pathophysiology: The association of seemingly disparate skeletal and hematologic abnormalities has been proposed to be related to the simultaneous development of the heart, radii, and megakaryocytes at 6-8 weeks gestation. The similarity to congenital rubella suggests intrauterine injury at the time of development of the involved systems, but a common etiologic agent has not been identified. Alternatively, the contiguous gene model proposes that phenotypic findings are related when genes responsible for each defect are geographically related within a chromosome. This would be independent of the anatomic association and the degree of involvement in either system. The abnormality or absence of radii means muscles that normally attach to the radius attach to carpal bones. The platelet abnormality reflects platelet hypoproduction, for which numerous explanatory theories have been proposed. One suggestion is that failure in production of humoral or cellular stimulators of megakaryocytopoiesis (eg, thrombopoietin) is responsible for inhibiting platelet production. However, recent studies by Sekine et al in 1998 and Ballmaier et al in 1997 have shown comparable or higher levels of thrombopoietin in patients with TAR, as compared to healthy controls.
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Hematology Last Updated: March 7, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: TAR syndrome AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: John K Wu, MBBS, MSc, FRCP(C) , Clinical Associate Professor, Department of Pediatrics, Division of Hematology-Oncology-BMT, University of British Columbia, Vancouver, Canada Coauthor(s): Suzan Williams, MD, FRCP(C) , Staff Physician, Department of Pediatrics, McMaster University Medical Center, Hamilton, Ontario John K Wu, MBBS, MSc, FRCP(C), is a member of the following medical societies: American Society of Hematology , and Canadian Medical Association Editor(s): J Martin Johnston, MD , Consulting Staff, Department of Pediatrics, Division of Hematology-Oncology, Saint Luke's Mountain States Tumor Institute; Robert Konop, PharmD
Extractions: Administrator posted 10-26-1999 08:43 AM http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?274000 We have seen a family in which inheritance appears to be autosomal dominant with reduced penetrance/variable expression. There are two clearly affected cousins, the mother of one has short-appearing forearms, as does the common grandmother. The father of the other cousin has no obvious phenotypic manifestations. Contact:
HUM-MOLGEN Archive: DIAG: 11 Messages 8) Name change Helix is now GeneTests 9) Robinow syndrome 10) Congenital nephroticsyndrome 11a) thrombocytopeniaabsent radius syndrome 11b) Osteolysis http://www.hum-molgen.de/mail-archive/1999-Oct/msg00000.html
Eddies TAR Syndrome Page - Glossary The radius is the longer of the two bones and is missing in TAR TAR Short for thrombocytopeniaabsent radius syndrome see also thrombocytopenia absent radius http://www.geocities.com/edward_white83/tar/glossary.html
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Ask Jeeves: Search Results For "Absent" meaning thrombocytopenia, Absence of radius syndrome . The main characteristicsof TAR I .. http//personal.nbnet.nb.ca/seepat/ 2. The absent Innkeeper http://webster.directhit.com/webster/search.aspx?qry=Absent
The Contact A Family Directory - TAR SYNDROME as well but the unique feature of thrombocytopenia and absent feature of TAR is absenceof the radius but presence at 18 weeks may show up the absent radii and http://www.cafamily.org.uk/Direct/t12.html
Extractions: printer friendly TAR SYNDROME home more about us in your area conditions information ... how you can help search this site TAR: Thrombocytopenia and Absent Radius Thrombocytopenia means low platelets. The thrombocytes are the platelets and "penia" means "not very much of." In T hrombocytopenia and A bsent R adius there are low platelets and absence of the radius on both sides (bilaterally). The radius and the ulna are the two bones in the forearm. The radius is the bone that is on the side of the forearm where the thumb is and the ulna is on the side of the arm where the little finger is. There may be other bones involved as well but the unique feature of Thrombocytopenia and Absent Radius is that although the radius is absent, the thumb is present. Most other limb anomalies that involve the radius also affect the thumb. There are a number of other disorders that involve elements of the blood and abnormal structure of bones of the arm and it is important to realise that TAR is a very specific condition. TAR is considered a congenital abnormality since the bone structure is abnormal at birth. TAR has an ongoing problem since during childhood most affected individuals continue to have low platelets. Viral illnesses and other kinds of stress can cause the platelets to become very low and even require platelet transfusions. All individuals with TAR have low platelets but often as they grow older, it becomes less of a problem and affected individuals can outgrow the risk of bleeding related to low platelets. About ninety per cent of individuals with TAR are symptomatic during the first year of life with easy bruising, bleeding from the GI tract or even bleeding into the brain. The level of platelets will fall and rise throughout low platelet episodes. A normal platelet count is greater than two hundred thousand platelets per millilitres squared of blood. Individuals with TAR may have less than ten thousand platelets per millilitres squared when they are having severe episodes.
Extractions: TAR-Syndrom n: Kubez. nach ( engl.) Thrombocytopenia- Absent Radius- Syndrome; syn. Radiusaplasie- Thrombozytopenie- Syndrom: autosomal erbl. Fehlbildungssyndrom; mehr als 100 Fälle bekannt; Sympt.: bilaterale Radiusaplasie* ( Daumen vorhanden), Ulna- u. Humerusfehlbildungen , Thrombopenie* inf. verminderter Megakaryozytenprodution mit starker Blutungsneigung in der Lebensmonaten, leukämoide Reaktionen u. Eosinophilie, kuhmilchunverträglichkeit im kleinkindesalter; fakultativ Fehlbildungen der unteren Extremitäten ( in über 50%) u. angeborene Herzfehler (in ca. 30%). engl. = thrombocytopenia-absent radius syndrome) autosomal-rezessiv erbliche symmetrische Radiusaplasie, kombiniert mit Thrombozytopenie (verminderte Megakaryozytenproduktion) sowie anderen (variablen) Skelettfehlbildungen; häufig Herzfehler. Phokomelie engl.: phocomelia »Robbengliedrigkeit«, durch rudimentäre Entwicklung der langen Röhrenknochen bedingte Defektfehlbildung der Extremitäten mit rel. normal ausgebildeten Händen bzw. Füßen; z.B. bei Thalidomid-Embryopathie, SC-Syndrom. Tetraphokomelie engl.:
Extractions: 1. Ellis Van Creveld: recessive inherited, prevalent in Amish community in Pennsylvania, variable shortening more so in forearm and lower legs (mesomelic), hypoplastic tibia, cardiac anomalies (ASD), post axial polydactyly 2. Iniencephaly: defect in the occiput resulting in exposure of the brain, combined with dysraphism of the cervical spine, results in fusion of the occiput to the cervical spine, and retroflexion of the head with an exaggerated spinal lordosis, associated with encephalocele, spinal bifida. 3. Jeune syndrome (asphyxiating thoracic dystrophy): short ribbed limb reduction syndrome, inherited as autosomal recessive, severe rib shortening, thoracic reduction, renal dysplasia, hypoplastic lungs, post axial polydactyly. Next
Canadian Directory Of Genetic Support Groups thrombocytopenia absent radius TAR syndrome Association 212 Sherwood Dr. RD 1 EggHarbor Twp, NJ 08234 USA Telephone (609) 9270418 Fax 609 653 8639 Email http://www.lhsc.on.ca/programs/medgenet/tarsa.htm
TAR Syndrome Brief Summary thrombocytopeniaabsent radius (TAR) syndrome is arare genetic disorder that is apparent at birth (congenital). http://personal.nbnet.nb.ca/seepat/brief.htm
Extractions: Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by low levels of platelets in the blood (thrombocytopenia), resulting in potentially severe bleeding episodes (hemorrhaging) primarily during infancy. Other characteristic findings include absence (aplasia) of the bone on the thumb side of the forearms (radii) and underdevelopment (hypoplasia) or absence of the bone on the "pinky" side of the forearms (ulnae). Other abnormalities may also be present, such as structural malformations of the heart (congenital heart defects), kidney (renal) defects, and/or mental retardation that may be secondary to bleeding episodes in the skull (intracranial hemorrhages) during infancy. TAR syndrome is inherited as an autosomal recessive trait. Tar Syndrome is also known as: - Radial Aplasia-Amegakaryocytic Thrombocytopenia - Radial Aplasia-Thrombocytopenia Syndrome - Thrombocytopenia-Absent Radii Syndrome Management of Disorder: Supportive : 1. Supportive transfusions of platelets, whole blood products
TAR Syndrome, Alex`s Website A personal page about this disorder including links to information.Category Health Conditions and Diseases Radial Aplasiathrombocytopenia syndrome thrombocytopenia-absent Radii syndrome TARsyndrome, meaning thrombocytopenia, Absence of radius syndrome . http://personal.nbnet.nb.ca/seepat/
Extractions: TAR Syndrom On September 28, 1998 my son Alex was born with thrombocytopenia (low platelet count) and missing radii in both arms. The diagnosis was made as TAR Syndrome, meaning "Thrombocytopenia, Absence of Radius syndrome". The main characteristics of TAR Syndrome are low platelet values, the absence of radii bones (arm) and other skeletal abnormalities. Other clinical features are cardiac abnormalities and cow's milk allergies or intolerance. These children also tend to have elevated white blood cells. Tar Syndrome is a rare genetic disease, when Alex was diagnosed the hospital told us that there was 161 known documented cases in Canada. A Spanish study showed that the estimated frequency of Tar syndrome in their area was .42 per 100,000 live born infants. It is not known if we can assume a similar frequency in Canada and in the United States. Alex's Life History:: Links:: Medical Research / Associations Platelets Pictures of Alex:: (Please be patient, loading may take time)
TAR Syndrome thrombocytopenia AND absent radius (TAR) syndrome. thrombocytopenia and absent radiusis certainly a big mouthful but in fact it is simply a descriptive term. http://www.angelfire.com/ma3/jaredmills/jared_r._mills_003.htm
Extractions: THROMBOCYTOPENIA AND ABSENT RADIUS (TAR) SYNDROME Thrombocytopenia and Absent Radius is certainly a big mouthful but in fact it is simply a descriptive term. Thrombocytopenia means low platelets. The thrombocytes are the platelets and "penia" means "not very much of." There are two bones in the forearm: The radius and the ulna. The radius is the bone that is on the side of the forearm where the thumb is and the ulna is on the side of the arm where the little finger is. In Thrombocytopenia and Absent Radius there are low platelets and absence of the radius on both sides (bilaterally). There may be other bones involved as well but the unique feature of Thrombocytopenia and Absent Radius is that although the radius is absent, the thumb is present. Most other limb anomalies that involve the radius also affect the thumb. There are a number of other disorders that involve elements of the blood and abnormal structure of bones of the arm and it is important to realize that TAR is a very specific condition. The features of each particular syndrome have been fairly well defined although there are always new things that are learned (perhaps even your family can contribute to new knowledge). TAR is considered a congenital abnormality since the bone structure is abnormal at birth (congenital means present at birth). But TAR also has an ongoing problem since during childhood most affected individuals continue to have low platelets. In fact, with viral illnesses and other kinds of stress, the platelets may become very low and even require platelet transfusions.
T Index T Part II. THERAPY. thrombocytopenia absent radius (TAR) syndrome. THUMBSUCKING.THYROID DISORDERS. TINNITUS. TOILET TRAINING. TOOTH AND NAIL syndrome. http://www.childhealthinfo.com/tindex.htm
Extractions: ChildHealthInformation Center - The Online Database A B C D ... Z Please click on the "box below" to view the following topics TANTRUMS TARDIVE DYSKINESIA TAXES TAY-SACHS DISEASE TEENAGERS TELEMEDICINE TELEVISION TERMINAL ILLNESS TESTS, MEDICAL THALASSEMIA THALIDOMIDE Please click on the "box below" to view the following topics T Part II THERAPY THROMBOCYTOPENIA ABSENT RADIUS (TAR) SYNDROME ... TRAUMA Please click on the "box below" to view the following topics T Part III TRAVEL - MOVING TRAVEL AND HEALTH Please click on the "box below" to view the following topics T Part IV TREACHER COLLINS DISEASE TREMORS TRICHOTILLOMANIA TRISOMY 18, 13 TRIVIA TUBEROUS SCLEROSIS TURNER'S SYNDROME TWIN TO TWIN TRANSFUSION SYNDROME TWINS TYROSINEMIA I [Home] [Printed Guide] [Child Care for the '90's] MoreInfo@ChildHealthInfo.com
IComm: File Not Found! The thrombocytopenia absent radius (TAR) syndrome Association 212 Sherwood DriveLinwood, NJ 08221 USA Phone 1609-927-0418 Fax 1-609-653-8639 Email spp212 http://www.icomm.ca/geneinfo/sg-t.htm
Re [MOL] Elevated Platelet Count/REPLY HIGH PLATELET COUNT [ Congenital causes of thrombocytopenia include WiskottAldrich syndrome, May-Hegglinanomaly, thrombocytopenia with absent radius, and Bernard-Soulier syndrome. http://www.meds.com/archive/mol-cancer/2000/06/msg03134.html
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Tar Syndrome Tar syndrome,, Print this article, thrombocytopenia and absent radius syndrome.Clinical manifestations reflect the absent radius and the thrombocytopenia. http://www.amershamhealth.com/medcyclopaedia/Volume VII/TAR SYNDROME.asp
GASNet Anesthesiology: Contents S - Z TAR. TAR syndrome (thrombocytopenia and absent radius). Tauri. thrombocytopenia.TAR syndrome (thrombocytopenia and absent radius). Tooth. http://gasnet.med.yale.edu/pediatric-syndromes/s2z_br.php
Extractions: Contents S - Z - pediatric syndromes - Sachs Tay - Sachs Disease Saethre Saetre - Chotzen Syndrome Sanfilippo Sanfilippo Syndrome (Mucopolysaccharidosis Type III) Scheie Scheie Disease (Mucopolysaccharidosis Type V) Schönberg Albers - Schönberg Disease (Osteopetrosis, Marble Bone Disease) Schönlein Henoch - Schönlein Purpura Schuller Hand - Schuller - Christian Disease (Histiocytosis X) Schwartz Schwartz - Jampel Syndrome Scleroderma Scleroderma Senior Senior - Loken Syndrome Seip Seip - Lawrence Syndrome Sheldon Freeman - Sheldon Syndrome (Whistling Face Syndrome) Shone Shone Syndrome Shy Shy - Drager Syndrome Siemens Christ - Siemens - Touraine Syndrome (Anhydrotic Ectodermal Dysplasia) Silver Russell - Silver Syndrome Sipple Sipple's Syndrome (MEN - type II) Siwe Letterer - Siwe Disease (Acute Disseminated Histiocytosis) Smith Smith - Lemli - Opitz Syndrome Sotos Sotos's Syndrome (Cerebral Gigantism) Spatz Hallervorden - Spatz Disease Stevens Erythema Multiforme Major (Stevens - Johnson Syndrome) Steinert Myotonic Dystrophy (Steinert's Disease) Stickler Stickler Syndrome Still Still's Disease Strandberg Groenblad - Strandberg Syndrome (Pseudoxanthoma Elasticum) Streiff Hallerman - Streiff Syndrome Sturge Sturge - Weber Syndrome Sulzberger Bloch - Sulzberger Syndrome Sydenham Sydenham's Chorea System Lupus Erythematous System Lupus Erythematous Tangier Tangier Disease (Analphalipoproteinemia) TAR TAR Syndrome (Thrombocytopenia and Absent Radius) Tauri Tauri Disease (Glygogen Storage Disease Type VII) Tay Tay - Sachs Disease Taybi Rubenstein - Taybi Syndrome Telangiectasia
