Holt Oram Syndrome (HOS) is a rare genetic disorder that affects the development of the heart and upper limbs. It is characterized by structural abnormalities in the heart, particularly the septum and valves, as well as skeletal abnormalities in the hands and arms.
The prevalence of Holt Oram Syndrome is estimated to be around 1 in 100,000 individuals worldwide. Although it is considered a rare condition, the actual number of affected individuals may be higher due to underdiagnosis or misdiagnosis.
Holt Oram Syndrome follows an autosomal dominant pattern of inheritance, meaning that a person with the syndrome has a 50% chance of passing it on to their children. It is caused by mutations in the TBX5 gene, which plays a crucial role in the development of the heart and upper limbs.
Diagnosis of Holt Oram Syndrome involves a thorough clinical evaluation, including physical examination, imaging tests, and genetic testing. Treatment primarily focuses on managing the cardiac abnormalities through surgical interventions, medications, and regular monitoring.
Living with Holt Oram Syndrome can present challenges, but with appropriate medical care and support, individuals with the condition can lead fulfilling lives.