acheiropody

Acheiropody is an extremely rare developmental disorder present from birth. It is characterized by the complete absence of the distal parts of the arms and legs. People with this condition are born with missing hands and feet, including the bones that would normally form these parts of the limbs. This disorder is very rare and is noted to only affect the limbs. No other body systems have been reported to be affected. The description of the condition focuses on the unique limb deficiencies that are present from birth.

The main signs of acheiropody are the complete absence of the hands and feet, including missing bones in the arms and legs. This includes bilateral, congenital amputation of the distal parts of the limbs, such as the loss of the distal epiphysis of the humerus and parts of the tibial diaphysis. Other limb bones, like the radius, ulna, fibula, carpal, metacarpal, tarsal, metatarsal, and phalangeal bones, may also be absent. In very rare situations, an extra bone might be present at the end of the humerus.

Acheiropody is caused by genetic factors and follows an autosomal recessive pattern. This means that children need to inherit two copies of the altered gene, one from each parent, to develop the condition. The gene known to be involved is LMBR1.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.