TAR syndrome


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throm·bo·cy·to·pe·ni·a-ab·sent ra·di·us syn·drome

, TAR syndrome [MIM*274000]
congenital absence of the radius associated with thrombocytopenia that is symptomatic in infancy but later improves; congenital heart disease and renal anomalies occur in some cases; autosomal recessive inheritance.

throm·bo·cy·to·pe·ni·a-ab·sent ra·di·us syn·drome

, TAR syndrome [MIM*274000]
congenital absence of the radius associated with thrombocytopenia that is symptomatic in infancy but later improves; congenital heart disease and renal anomalies occur in some cases; autosomal recessive inheritance.

TAR syndrome

TAR syndrome

Trombocytopenia-absent radius syndrome An AR condition of perinatal onset characterized by Thrombocytopenia with Absent Radius–thumbs are almost always present Clinical Profound thrombocytopenia, purpura with amegakaryocytosis in BM and bilateral aplasia of the radii, phocomelia, the fibula is often absent; up to23 of Pts have leukemoid reactions, occasionally anemia, eosinophilia, cardiovascular disease–eg, ASD, Fallot's tetralogy, cutaneous and renal anomalies Prognosis 50% die in the 1st yr of life due to intracranial hemorrhage. See Thrombocytopenia.
References in periodicals archive ?
Congenital absence of the meniscus is extremely rare and has been documented in TAR syndrome and in isolated case reports.
Sheila Radziewicz, a 32-year-old brown belt, born with thrombocytopenia-absent radius, or Tar syndrome, has been training in martial arts for three years.
TAR syndrome is a rare autosomal recessive disorder characterized by neonatal thrombocytopenia and hypoplasia of the radial bones of the forearms with absent, short, or malformed ulnae.
Hayley's swimming feats have been accomplished despite being born with Tar Syndrome, which means she has no radius bones in her lower arms.