Holt-oram syndrome is the skeletal abnormalities of hands and arms and heart problems. People suffering from this condition will have at least one abnormal limb, affecting wrist bones. Heart problems include either atrial septal defect or ventricular septal defect. This is an inherited autosomal dominant disorder. For treating structural abnormalities of the heart the primary treatment is closure of the defect with surgery. Mutations in the TBX5 gene results in holt-oram syndrome.
HOW IS HOLT-ORAM SYNDROME DIAGNOSED?
Holt-oram syndrome is a rare genetic disorder with estimated prevalence of 1/100,000 live births.