Holt–Oram syndrome

Holt-Oram syndrome
Other namesHeart-hand syndrome, Atrio-digital syndrome, Atriodigital dysplasia
Holt-Oram syndrome has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics 
CausesMutations in the TBX5 gene

Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. The syndrome may include an absent radial bone in the forearm, an atrial septal defect in the heart, or heart block. It affects approximately 1 in 100,000 people.