Holt-Oram Syndrome

Question 1

What are the symptoms of Holt-Oram syndrome?

Answer 1

Birth abnormalities affecting hands, wrists, and/or heart

• At least one bone in the wrist or hand is not developed normally
• Atrial septal defects (ASD) or ventricular septal defects (VSD) most common, cardiac conduction disease can occur

Question 2

What gene is involved in Holt-Oram syndrome?

Answer 2

TBX5 gene

Question 3

What is the inheritance pattern for Hot-Oram syndrome?

Answer 3

Autosomal dominant

Question 4

What is the phenotype of the heterozygous in Holt-Oram syndrome?

Answer 4

The person will inherited the disease and display signs and symptoms.