41. EMedicine - Thrombocytopenia-Absent Radius Syndrome : Article Excerpt By: John K Background thrombocytopeniaabsent radius (TAR) syndrome is a rare association of thrombocytopenia and bilateral http://www.emedicine.com/ped/byname/thrombocytopenia-absent-radius-syndrome.htm

(advertisement) Excerpt from Thrombocytopenia-Absent Radius Syndrome Synonyms, Key Words, and Related Terms: TAR syndrome Please click here to view the full topic text: Thrombocytopenia-Absent Radius 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.

42. EMedicine - Thrombocytopenia-Absent Radius Syndrome : Article By John K Wu, MBBS thrombocytopeniaabsent radius syndrome - thrombocytopenia-absent radius (TAR) syndromeis a rare association of thrombocytopenia and bilateral radial aplasia http://www.emedicine.com/PED/topic2237.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Hematology Thrombocytopenia-Absent Radius Syndrome 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

43. OMIM 274000: Thrombocytopenia-absent Radius Syndrome - HUM-MOLGEN Author, Topic OMIM 274000 thrombocytopeniaabsent radius syndrome.FS Zollmann Administrator, posted 10-26-1999 0843 AM Click Here http://www.hum-molgen.de/bb/Forum2/HTML/000011.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) OMIM 274000: Thrombocytopenia-absent radius syndrome profile register preferences faq ... next oldest topic Author Topic: OMIM 274000: Thrombocytopenia-absent radius syndrome FS Zollmann 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: Helga V. Toriello, Ph.D. Genetics Services 21 MIchigan St., Suite 465 Grand Rapids, MI 49503 USA Phone: 616-391-2700 Fax: 616-391-3114 Email: helga.toriello@spectrum-health.org IP: 160.45.191.21 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

44. 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

home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 11 messages archive of HUM-MOLGEN mails [Author Prev][Author Next][Thread Prev][Thread Next][ Author Index Topic Index To: HUM-MOLGEN@NIC.SURFNET.NL Subject : DIAG: 11 messages From gambacorti@istitutotumori.mi.it Date : Mon, 25 Oct 1999 19:45:05 +0200 Posted-Date: Mon, 25 Oct 1999 19:45:05 +0200 http://www.ich.ucl.ac.uk/ http://www.tccc.tch.tmc.edu/disease/rts/ http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

45. 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

Glossary Cruciate ligaments Ilizarov frame Lower Arm Platelets ... Ulna Cruciate ligaments the two ligaments that cross over the knee diagonally holding the knee straight. Ilizarov frame a metal fromework that is attached to the bones in the leg. these are then adjusted to control the repairing of a break allowing the bone to be rotated or lengthened Ligament ligaments are fibrous straps that stop your joints from moving in certain directions. Double jointedness is caused by extra stretchy ligaments Lower Arm The part of your arm from the wrist to the elbow. Platelets Cell fragments that are produced in bone marrow when you bleed these collect at the cut and stick together to form a clot. Radius The bone that with the Ulna make up the lower arm . The Radius is the longer of the two bones and is missing in TAR TAR Short for Thrombocytopenia Absent Radius Syndrome see also Thrombocytopenia Absent Radius Syndrome TAR Syndrome Short for Thrombocytopenia Absent Radius Syndrome see also Thrombocytopenia Absent Radius Syndrome Thalidomide Drug used in the 50s and 60s to suppress the effects of morning sickness. It caused Birth Defects similar to

46. Qango : Health: Diseases And Conditions: Genetic Disorders Cell Disease@; SmithMagenis syndrome@; Stickler syndrome@; Tay-Sachs@;thrombocytopenia absent radius (TAR) syndrome@; Treacher Collins http://www.qango.com/dir/Health/Diseases_and_Conditions/Genetic_Disorders/

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Genetic Disorders all of Qango only this category Options Help Home Health ... Diseases and Conditions > Genetic Disorders Suggest a Site Health, etc Categories Achondroplasia@ Achromatopsia@ Acid Maltase Deficiency@ Adrenoleukodystrophy@ ... Diseases and Conditions > Genetic Disorders Suggest a Site Home Suggest a Site Search ... Login

47. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders . See Related Categories.......1UpHealth Health Directory Conditions and Diseases Genetic Disorders ThrombocytopeniaAbsent radius syndrome (4). http://www.1uphealth.com/links/genetic-disorders-thrombocytopenia-absent-radius-

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Thrombocytopenia Absent Radius Syndrome Description See Related Categories Health: Conditions and Diseases: Rare Disorders Sites NORD - Thrombocytopenia Absent Radius Syndrome Offers the synonyms, a general discussion and further resources. Pediatric Database A definition of TAR syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. TAR Syndrome A personal page about this disorder including links to information. TAR Syndrome Support Group For families of children born with this rare disorder. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

48. 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

49. 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

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.

50. Erlaeuterungen thrombocytopenia-absent radius syndrome) http://holger.stolzmann.bei.t-online.de/erlaeuterungen.html

TAR-Syndrom engl.: TAR syndrome 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.:

51. Exam 9. thrombocytopeniaabsent radius syndrome bilateral radial aplasia, thumbs arealways present, coexisting heart disease such as Fallot’s, VSD. Next. 10. http://www.indianradiologist.com/exam3.htm

Exam Hall We suggest you get a piece of paper and pencil and jot down your answers. You've got 5 minutes ! TOPIC : Syndromes 1. What is Ellis van Creveld syndrome (chondroectodermal dysplasia). 2. Iniencephaly? 3. Jeune Syndrome? Click Here For Answer 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 5. Jarcot Levin Syndrome?

52. 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

Index by support group Canadian Directory of Genetic Support Groups Thrombocytopenia Absent Radius TAR Syndrome Association 212 Sherwood Dr. R.D. 1 Egg Harbor Twp, NJ 08234 U.S.A. Telephone: (609) 927-0418 Fax: 609 653 8639 Email: spurinton@comcast.net TAR online support: http://groups.yahoo.com/group/TarSupport/ Email: TARSupport@yahoogroups.com Page revised:October 11, 2002 Maintained by: Janice Little Index by disease/ disorder Return to Programs and Services Questions? Comments? Contact Janice Little London Health Sciences Centre . Please read our

53. 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

Brief Summary: 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

54. 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/

Updated The Reason for this web page is to help anyone confronted with TAR's Syndrome and at the same time find support for my own son. Radial Aplasia-Amegakaryocytic Thrombocytopenia Radial Aplasia-Thrombocytopenia Syndrome Thrombocytopenia-Absent Radii Syndrome TAR Syndrome 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)

55. 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

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.

56. 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

ChildHealthInformation Center - The Online Database A B C D ... Z Please click on the "box below" to view the following topics T Part I 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

57. 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

File Not Found We're sorry, but the file you're looking for can't be found. You might want to try starting at our front page or a list of iComm accountholders , or you can search the site This site was last updated on 30 August 2002. iComm Questions regarding the iComm web site should be sent to our webmaster

58. 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

Date Prev Date Next Thread Prev Thread Next ... Thread Index Re: [MOL] Elevated Platelet count/REPLY HIGH PLATELET COUNT To mol-cancer@lists.meds.com Subject : Re: [MOL] Elevated Platelet count/REPLY HIGH PLATELET COUNT From firefly@islc.net Date : Fri, 30 Jun 2000 04:37:07 -0700 References 395CD81E.3C4B8639@sympatico.ca Reply-To mol-cancer@lists.meds.com Sender owner-mol-cancer@lists.meds.com http://www.meds.com/con_faq.html References [MOL] Elevated Platelet count From: Prev by Date: [MOL] Need Money?.?......... Next by Date: [MOL] Hello Everyone Prev by thread: [MOL] Elevated Platelet count Next by thread: [MOL] TO All our friends... Index(es): Date Thread

59. 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

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Tar syndrome, thrombocytopenia and absent radius syndrome. Clinical manifestations reflect the absent radius and the thrombocytopenia. Radiologically, there is an absent radius which may be associated with other upper limb deformities. HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Privacy Policy Contact us Making Waves

60. 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

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

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