Heart-hand syndrome type 2

Definition

A rare multiple congenital anomalies/dysmorphic syndrome 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). There have been no further descriptions in the literature since 1990.