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heart-hand syndrome type 3

Disease Summary
Associated Targets ()

Mondo Description Heart-hand syndrome type 3 is a very rare heart-hand syndrome, 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, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
Mondo Term and Equivalent IDs
MONDO:0007702:  heart-hand syndrome type 3
GARD:0002614: 
MESH:C535853: 
Orphanet:1342: 
SCTID:721013001: 
UMLS:C1841657: