Holt Oram Syndrome is a rare genetic disorder that affects the development of the upper limbs and the heart. It is characterized by skeletal abnormalities in the hands and arms, as well as congenital heart defects.
The skeletal abnormalities typically involve malformations of the bones in the wrist and thumb, leading to limited mobility and functionality of the affected hand. The severity of these abnormalities can vary from person to person.
Congenital heart defects associated with Holt Oram Syndrome can include abnormalities in the structure of the heart, such as holes in the walls separating the chambers or malformations of the valves. These heart defects can lead to various cardiovascular complications and may require medical intervention.
Holt Oram Syndrome is caused by mutations in a specific gene called TBX5, which plays a crucial role in the development of the upper limbs and the heart during embryonic development.
Diagnosis of Holt Oram Syndrome is typically based on clinical evaluation, medical history, and genetic testing. Treatment options focus on managing the symptoms and associated complications, which may involve surgical interventions for the heart defects and occupational therapy for hand function improvement.