Holt–Oram syndrome
| Holt-Oram syndrome | |
|---|---|
| Other names | Heart-hand syndrome, Atrio-digital syndrome, Atriodigital dysplasia |
| Holt-Oram syndrome has an autosomal dominant pattern of inheritance | |
| Specialty | Medical genetics |
| Causes | Mutations 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.