Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities.

[1] It is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems.

The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block.

[citation needed] Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy.

It has been claimed that congenital heart diseases are caused by a limited number of shared genetic defects.