GTR Home > Conditions/Phenotypes > Holt-Oram syndrome


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.

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