ACHEIROPODIA: WHAT IS ACHEIROPODIA?
Definition: What is "acheiropodia"?
Acheiropodia is a disorder that is autosomal recessive in nature & which results into hemimelia (or the lack of distal extremities formation). This is an inborn defect consisting of aplasia of the patient's feet & hands & also distal lower & upper extremities bilateral amputations. This disease is found almost solely in Brazil. Other terms for this disorder include Acheiropody, Horn Kolb syndrome & Aleijadinhos (the Brazilian kind).
Symptoms & Signs
The two most apparent symptoms are the absence of feet & hands. Sometimes the feet just appear malformed. Deformity of the limb bones is the most common complication that results from Acheiropodia.
This disorder is caused by a deletion of the C7orf2 gene (human orthologue of the Lmbr1 gene).
This disorder falls under the category of rare diseases as it only affects less than 200,000 of individuals in the United States. This classification was set by the Office of Rare Diseases.