Thrombocythemia with distal limb defects
Synonyms: Familial thrombocytosis with transverse limb defect | Hereditary thrombocytosis with transverse limb defect
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Thrombocythemia with distal limb defects?
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Clinical Trials
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