Holt-Oram Syndrome

"Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100,000 live births. This review goes in to the details of wide spectrum of clinical characteristic, diagnosis and treatment of this rare syndrome. HOS is inherited in an autosomal dominant manner, a mutation in TBX5 gene located on chromosome 12 (12q24.1) is associated with variable phenotypes. This rare syndrome characterized by upper limb defects such as carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray are more frequent in addition to that this syndrome is associated with cardiac septal defects among these the most common congenital heart defect is the ostium secundum ASD, followed by the ventricular septal defect (VSD). The diagnosis was established on the base of clinical examination, radiological findings, and echocardiography. The management of individuals with HOS optimally involves a multidisciplinary team approach with specialists moreover, along with medical and surgical care genetic council is inevitable.