GTR Home > Conditions/Phenotypes > Holt-Oram syndrome

Summary

Excerpted from the GeneReview: Holt-Oram Syndrome
Holt-Oram syndrome (HOS) is characterized by: Upper-extremity malformations involving radial, thenar, or carpal bones; and Variably, one or both of the following: Personal and/or family history of congenital heart malformation, most commonly ostium secundum atrial septal defect (ASD) and ventricular septal defect (VSD), especially those occurring in the muscular trabeculated septum. Cardiac conduction disease. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. Seventy-five percent of individuals with HOS have a congenital heart malformation.

Associated genes

open

Clinical features

Help

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.