Rare Diseases Symptoms Automatic Extraction

Heart-hand syndrome.

[holt-oram syndrome]

Heart-hand syndromes show substantial clinical and genetic heterogeneity. The unusual case of a patient with a heart-hand syndrome consisting of preaxial polydactylia, postaxial syndactylia, parachute mitral valve, mild subaortic stenosis, and double outlet right ventricle is presented and discussed. The importance of distinguishing Holt-Oram syndrome from its phenocopies and other heart-hand syndromes is underlined.