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Thrombocythemia with distal limb defects

Disease definition

Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.


Classification level: Disorder
  • Synonym(s):
    • Familial thrombocytosis with transverse limb defect
    • Hereditary thrombocytosis with transverse limb defect
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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