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Absent radii and thrombocytopenia [Supplementary Concept]

A hereditary disorder characterized by thrombocytopenia and absence of the radius. However, in contrast to similar disorders like FANCONI ANEMIA, the thumb is preserved. Individuals have low numbers of MEGAKARYOCYTES and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects. This disorder is caused by a combination of null mutation of the RBM8A gene through deletion on one copy of chromosome 1q21.1 and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms (SNPs) in RBM8A on the other. OMIM: 274000

Date introduced: June 25, 2010

MeSH Unique ID: C536940

Heading Mapped to:

Entry Terms:

  • Chromosome 1q21.1 Deletion Syndrome, 200-Kb
  • TAR Syndrome
  • Radial Aplasia-Amegakaryocytic Thrombocytopenia
  • Radial Aplasia-Thrombocytopenia Syndrome
  • Thrombocytopenia Absent Radii
  • Thrombocytopenia absent radius syndrome
  • Thrombocytopenia-Absent Radius Syndrome

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