Congenital absence of the upper arm and forearm with the hand present is a rare condition that affects approximately 1 in every 10,000 live births. This condition is known as proximal longitudinal deficiency or radial club hand. It can occur in one or both arms and can vary in severity from mild to severe.
The cause of proximal longitudinal deficiency is not fully understood, but it is believed to be due to a disruption in the development of the arm bones in the early stages of fetal development. It is more common in males than females and can be associated with other congenital abnormalities.
The main symptom of proximal longitudinal deficiency is the absence of the upper arm and forearm bones, with the hand and wrist present. The affected arm may be shorter than the other arm and may have limited range of motion. The hand may also be deformed or have limited function.
Treatment for proximal longitudinal deficiency depends on the severity of the condition. Mild cases may not require any treatment, while more severe cases may require surgery to improve function and appearance. Surgery may involve bone grafts, soft tissue reconstruction, or amputation and prosthetic fitting.
Physical therapy may also be recommended to improve range of motion and strength in the affected arm and hand. Occupational therapy can help individuals with proximal longitudinal deficiency learn ways to perform daily activities using their affected arm and hand.
Congenital absence of the upper arm and forearm with the hand present is a rare condition that can have significant physical and emotional impact on affected individuals. It is important for individuals with this condition to receive appropriate medical care and support to optimize their function and quality of life.