Definition

Acheiropodia is a disorder that is autosomal recessive in nature and which results into hemimelia (or the lack of distal extremities formation). This is an inborn defect consisting of aplasia of the patient's feet and hands and also distal lower and upper extremities bilateral amputations. This disease is found almost solely in Brazil. Other terms for this disorder include Acheiropody, Horn Kolb syndrome and Aleijadinhos (the Brazilian kind).

Diagnosis

The two most apparent symptoms are the absence of feet and hands. Sometimes the feet just appear malformed. Deformity of the limb bones is the most common complication that results from Acheiropodia.

Treatment



Symptoms

This disorder is caused by a deletion of the C7orf2 gene (human orthologue of the Lmbr1 gene).

Causes