Acheiropodia

Below you will find more information about Acheiropodia from Medigest. If you believe that you are suffering from any of the symptoms of Acheiropodia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Acheiropodia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Acheiropodia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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).

Prevalence

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.

Symptoms and Signs

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.

Causes

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

Discuss Acheiropodia in our forums

Discuss Acheiropodia with other members of Medigest in our forums.