Orphanet: Heart hand syndrome type 3

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Heart-hand syndrome type 3

Disease definition

Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.


Classification level: Disorder
  • Synonym(s):
    • Atriodigital dysplasia type 3
    • Cardiomelic syndrome type 3
    • Heart-hand syndrome, Spanish type
    • Heart-limb syndrome type 3
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q87.2
  • ICD-11: LD2F.1Y
  • OMIM: 140450
  • UMLS: C1841657
  • MeSH: -
  • GARD: 2614
  • MedDRA: -
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