Holt–Oram syndrome
Holt–Oram syndrome
Holt–Oram syndrome (pronounced: hohlt-oh-ram sin-drohm), also known as heart-hand syndrome, is a genetic disorder characterized by abnormalities in the bones of the upper limbs and heart defects. The syndrome is named after the physicians Mary Holt and Samuel Oram who first described it in 1960.
Etymology
The term Holt–Oram syndrome is derived from the names of the two physicians, Dr. Mary Holt and Dr. Samuel Oram, who first identified and described the condition in a medical journal in 1960.
Definition
Holt–Oram syndrome is a genetic disorder that primarily affects the development of the cardiac system and upper limbs. It is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart defects. The severity of these defects varies widely among affected individuals.
Symptoms
The most common skeletal abnormalities associated with Holt–Oram syndrome are those that affect the thumb. These can range from a missing or underdeveloped thumb to a thumb that looks like a finger. Other skeletal abnormalities can include an underdeveloped bone in the forearm, partial or complete absence of bones in the forearm, and abnormalities of the clavicle and shoulder.
Heart defects associated with Holt–Oram syndrome can range from mild to severe. The most common heart defect is a septal defect, which is a hole in the wall that separates the right and left sides of the heart.
Causes
Holt–Oram syndrome is caused by mutations in the TBX5 gene. This gene provides instructions for making a protein that is critical for the development of the heart and upper limbs before birth.
Treatment
Treatment for Holt–Oram syndrome typically involves managing the symptoms and may include surgery to correct skeletal abnormalities and heart defects. Physical and occupational therapy may also be beneficial.
See also
External links
- Medical encyclopedia article on Holt–Oram syndrome
- Wikipedia's article - Holt–Oram syndrome
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