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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.

ORPHA:1342

Classification level: Disorder
  • Synonym(s):
    • Atriodigital dysplasia type 3
    • Cardiomelic syndrome type 3
    • Heart-hand syndrome, Spanish type
    • Heart-limb syndrome type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.2
  • OMIM: 140450
  • UMLS: C1841657
  • MeSH: -
  • GARD: 2614
  • MedDRA: -

Detailed information

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