Heart-hand syndrome type 3
Heart-hand syndrome type 3
Definition
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.
Also known as atriodigital dysplasia type 3, Cardiomelic syndrome type 3, heart-hand syndrome, Spanish type, heart-limb syndrome type 3 — per MONDO