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Heart-hand syndrome type 2

Disease definition

Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).

ORPHA:1350

  • Synonym(s):
    • Atriodigital dysplasia type 2
    • Tabatznik syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q87.2
  • OMIM: -
  • UMLS: C2931323
  • MeSH: -
  • GARD: 9847
  • MedDRA: -

Detailed information

Professionals

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