Disease Information for Absent radius/thrombocytopenia syndrome

Ads
Clinical Manifestations
Signs & Symptoms
Petechiae/Petechial rash
Asymmetric Limbs
Epistaxis Children
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings - Decreased
Platelet count (Lab)
Diagnostic Test Results
Pathology
Bone Marrow/Abnormal
X-RAY
Xray/Absent/hypoplastic radius bones
Associated Diseases & Rule outs
Rule Outs
Purpura, idiopathic thrombocytopenic
Thrombocytopenic purpura, chronic
Associated Disease & Complications
Absent radius/thrombocytopenia syndrome (TAR)
Atrial septal defect
Bleeding diathesis/hemorrhagic diathesis
Bleeding Tendency
Cerebral hemorrhage
Congenital heart disease
Epistaxis/nosebleed
Limb deformities/anomalies
Neonatal thrombocytopenia
Phocomelia
Skeletal dysplasia
Skeletal/bone malformations
Tetralogy of Fallot
Thrombocytopenia
Thrombocytopenia in Children
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Platelet disorder (ex)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Postaxial limb deficiency/phocomelia
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Absent radius thrombocytopenia syndrome, Synonym/Radial aplasia-Amegakaryocytic thrombocytopenia, Synonym/Radial aplasia-Thrombocytopenia syndrome, Synonym/TAR syndrome, Synonym/Thrombocytopenia Absent Radius/TAR
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME ;Radial Aplasia-Amegakaryocytic Thrombocytopenia ;TAR Syndrome; Thrombocytopenia-Absent Radii Syndrome; Tetraphocomelia-Thrombocytopenia Syndrome ; 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;

----------------------[NORD website 2005]------------

(Edit)

External Links Related to Absent radius/thrombocytopenia syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads