Holt-Oram syndrome (redirected from Cardiac-limb syndrome)

Holt-Oram syndrome

[hōlt or′əm]

Etymology: Mary Clayton Holt, British cardiologist, 20th century; Samuel Oram, English cardiologist, b. 1913

autosomal-dominant heart disease of varying severity, usually an atrial or ventricular septal defect associated with skeletal malformation (hypoplastic thumb and short forearm). Also called heart-hand syndrome.

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Holt-Oram syndrome

Heart-hand syndrome Molecular cardiology An AD disorder with structural defects of the heart and upper limbs Clinical Upper limb defects may be uni- or bilateral and involve structures of the embryonic radial ray causing aplasia, hypoplasia, fusion and anomalous development of the radial, carpal and thenar bones; defects include triphalangeal or absent thumbs, foreshortened arms and phocomelia; cardiac abnormalities are variably present and are either structural–eg, single or multiple atria, VSD, or functional–eg, bradycardia, various degrees of AV block; other defects in HOS include vertebral, anal, tracheoesophageal, and renal defects